| Event ID [@] |
Event Type | Peptide | Ref_aa | Mut_aa | Ref_Location | Mut_loc_at_peptide | Total Number of Overlapping Gene |
Overlapping Gene |
Overlapping Protein (UniProtKB_AC) |
UniProtKB Key Words |
Protein_position | Protein Atlas (Cancer Atlas) |
Chromosome | Genomic_Location | #Novel peptides in overlapping gene |
#Known peptides in overlapping gene |
Total Spec Count |
Number of possible genomic locations |
WT_Charge | MT_Charge | MT-WT_Charge | WT_Surface | MT_Surface | MT-WT_Surface | Kyte-Doolittle Hydrophilic(>0) |
Hopp-Woods Hydrophilic(>0) |
dbSNP_Overlap | #Spectra_Samples | #RNA_Samples | Max_Read_Depth | Mutation_Event_Position | log2(Gene/EGFR) Protein Expression |
Gene Rank, EGFR Rank Protein Expression |
In-Silico PCR | \
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 | fusion gene | D.Q:GRPTLSSEVGIIICDIANPASLDEMAK.Q | PERSSRLPWAVAGRSREKLQRVLEKAALKL | Q | 34 | 1 | 2 | SCCPDH | Q8NBX0 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 246823629-246823636;246890193-246890276 | 1 | 0 | 9 | 1 | 5 | 0 | -5 | 5060 | 180 | -4880 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.38747421726 |
1698.60895737,5807.84483542 |
0.000000 |
| 9 | fusion gene | K.SGYHN:TDEYRPPVWK.S | T | NTDEYRPPVWKS | 315 | 5 | 2 | ATF2 | B8ZZU6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B8ZZU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 175816895-175816930;175945387-175945403 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 2110 | 1970 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 0 | Unknown | -0.215093846505 |
6098.38463901,5807.84483542 |
0.000000 |
| 9 | fusion gene | K.SGYHN:TDEYRPPVWK.S | T | NTDEYRPPVWKS | 255 | 5 | 2 | ATF2 | F5H629 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H629,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 175816895-175816930;175945387-175945403 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 2110 | 1970 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 0 | Unknown | -0.215093846505 |
6098.38463901,5807.84483542 |
0.000000 |
| 9 | fusion gene | K.SGYHN:TDEYRPPVWK.S | T | NTDEYRPPVWKS | 431 | 5 | 2 | ATF2 | P15336 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;Complete-proteome;-Cytoplasm;-DNA-damage;-DNA-binding;-Membrane;Metal-binding;-Mitochondrion;-Mitochondrion-outer-membrane;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transcription;Transcription-regulation;-Transferase;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr2 | 175816895-175816930;175945387-175945403 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 2110 | 1970 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 0 | Unknown | -0.215093846505 |
6098.38463901,5807.84483542 |
0.000000 |
| 11 | alternative splice | R.TQSSSCE:IYVR.A | RDSPSTSRQSPANGHSSTNNSVSDLPSTTQPKGRQ | EI | 580 | 8 | 1 | CASK | O14936 | 3D-structure;-Alternative-splicing;-ATP-binding;-Calmodulin-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;-Disease-mutation;-Kinase;Membrane;-Mental-retardation;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Serine/threonine-protein-kinase;-SH3-domain;-Transferase. | Intracellular | Atlas | chrX | 41413153-41413168;41419031-41419055 | 1 | 3 | 4 | 1 | 2 | -1 | -3 | 5155 | 365 | -4790 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 1 | 0 | Unknown | 2.36570207481 |
3065.91987364,5807.84483542 |
0 |
| 11 | alternative splice | R.TQSSSCE:IYVR.A | RDSPSTSRQSPANGHSSTNNSVS | EI | 47 | 8 | 1 | CASK | Q5JS79 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JS79,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|SAAS:SAAS00452802}. | Intracellular | Atlas | chrX | 41413153-41413168;41419031-41419055 | 1 | 3 | 4 | 1 | 1 | -1 | -2 | 3290 | 365 | -2925 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 1 | 0 | Unknown | 2.36570207481 |
3065.91987364,5807.84483542 |
0 |
| 11 | alternative splice | R.TQSSSCE:IYVR.A | DLPSTTQPKGRQ | EI | 195 | 8 | 1 | CASK | Q5JS72 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JS72,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|SAAS:SAAS00452802}. | Intracellular | Atlas | chrX | 41413153-41413168;41419031-41419055 | 1 | 3 | 4 | 1 | 1 | -1 | -2 | 1865 | 365 | -1500 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 1 | 0 | Unknown | 2.36570207481 |
3065.91987364,5807.84483542 |
0 |
| 13 | alternative splice | Q.EE:GMVPFVFVGTK.D | EIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQR | EG | 331 | 3 | 1 | FMR1 | A0A087WXI3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXI3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 147018123-147018132;147022094-147022130 | 1 | 1 | 7 | 1 | 1 | -1 | -2 | 7295 | 265 | -7030 | -0.400000 | 0.000000 | - | 16 | 1 | 0 | Unknown | - |
- |
0 |
| 13 | alternative splice | Q.EE:GMVPFVFVGTK.D | EIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQ | EG | 331 | 3 | 1 | FMR1 | Q06787 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;Cell-junction;-Cell-membrane;-Cell-projection;-Centromere;-Chromosome;Complete-proteome;-Cytoplasm;-Disease-mutation;-DNA-damage;Host-virus-interaction;-Membrane;-Mental-retardation;-Methylation;mRNA-processing;-mRNA-splicing;-mRNA-transport;-Neurogenesis;-Nucleus;Phosphoprotein;-Polymorphism;-Postsynaptic-cell-membrane;Premature-ovarian-failure;-Reference-proteome;-Repeat;-Repressor;Ribonucleoprotein;-RNA-binding;-RNA-mediated-gene-silencing;-Synapse;Synaptosome;-Translation-regulation;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chrX | 147018123-147018132;147022094-147022130 | 1 | 1 | 7 | 1 | 1 | -1 | -2 | 10560 | 265 | -10295 | -0.400000 | 0.000000 | - | 16 | 1 | 0 | Unknown | - |
- |
0 |
| 13 | alternative splice | Q.EE:GMVPFVFVGTK.D | EIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQR | EG | 329 | 3 | 1 | FMR1 | G3V0J0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V0J0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 147018123-147018132;147022094-147022130 | 1 | 1 | 7 | 1 | 1 | -1 | -2 | 7295 | 265 | -7030 | -0.400000 | 0.000000 | - | 16 | 1 | 0 | Unknown | - |
- |
0 |
| 13 | alternative splice | Q.EE:GMVPFVFVGTK.D | EIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQ | EG | 331 | 3 | 1 | FMR1 | G8JLE9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G8JLE9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 147018123-147018132;147022094-147022130 | 1 | 1 | 7 | 1 | 1 | -1 | -2 | 10560 | 265 | -10295 | -0.400000 | 0.000000 | - | 16 | 1 | 0 | Unknown | - |
- |
0 |
| 13 | alternative splice | Q.EE:GMVPFVFVGTK.D | EIMPPNSLPSNNSRVGPNAPEEKKHLDIKENSTHFSQPNSTKVQR | EG | 331 | 3 | 1 | FMR1 | A8MQB8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8MQB8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 147018123-147018132;147022094-147022130 | 1 | 1 | 7 | 1 | 1 | -1 | -2 | 7295 | 265 | -7030 | -0.400000 | 0.000000 | - | 16 | 1 | 0 | Unknown | - |
- |
0 |
| 14 | alternative splice | R.L:GNASCTTNCLAPLAK.V | VIISAPSADAPMFVMGVNHEKYDNSLKIIS | LG | 119 | 1 | 1 | GAPDH | P04406 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Apoptosis;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Glycolysis;-Membrane;-Methylation;-NAD;Nucleus;-Oxidation;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-S-nitrosylation;-Transferase;Translation-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr12 | 6646168-6646176;6646474-6646520 | 1 | 12 | 9 | 1 | -1 | 0 | 1 | 4720 | 245 | -4475 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0 |
| 14 | alternative splice | R.L:GNASCTTNCLAPLAK.V | VIISAPSADAPMFVMGVNHEKYDNSLKIIS | LG | 44 | 1 | 1 | GAPDH | E7EUT5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EUT5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 6646168-6646176;6646474-6646520 | 1 | 12 | 9 | 1 | -1 | 0 | 1 | 4720 | 245 | -4475 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0 |
| 15 | alternative splice | K.II:RYDNEFGYSNR.V | SNASCTTNCLAPLAKVIHDNFGIVEGLMTTVHAITATQKTVDGPSGKLWRDGRGALQNIIPASTGAAKAVGKVIPELNGKLTGMAFRVPTANVSVVDLTCRLEKPAKYDDIKKVVKQASEGPLKGILGYTEHQVVSSDFNSDTHSSTFDAGAGIALNDHFVKLISW | R | 148 | 3 | 1 | GAPDH | P04406 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Apoptosis;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Glycolysis;-Membrane;-Methylation;-NAD;Nucleus;-Oxidation;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-S-nitrosylation;-Transferase;Translation-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr12 | 6646371-6646382;6647266-6647300 | 1 | 40 | 1 | 1 | 2 | 1 | -1 | 25440 | 225 | -25215 | -4.500000 | Hydrophilic;3.000000 | K->N(indbSNP:rs1062429). | 3 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0 |
| 15 | alternative splice | K.II:RYDNEFGYSNR.V | SNASCTTNCLAPLAKVIHDNFGIVEGLMTTVHAITATQKTVDGPSGKLWRDGRGALQNIIPASTGAAKAVGKVIPELNGKLTGMAFRVPTANVSVVDLTCRLEKPAKYDDIKKVVKQASEGPLKGILGYTEHQVVSSDFNSDTHSSTFDAGAGIALNDHFVKLISW | R | 73 | 3 | 1 | GAPDH | E7EUT5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EUT5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 6646371-6646382;6647266-6647300 | 1 | 40 | 1 | 1 | 2 | 1 | -1 | 25440 | 225 | -25215 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0 |
| 17 | alternative splice | R.:NENKVDGMNAPK.G | KD | N | 525 | 1 | 1 | EIF4B | P23588 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Initiation-factor;-Phosphoprotein;Polymorphism;-Protein-biosynthesis;-Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr12 | 53428489-53428493;53433021-53433059 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 350 | 160 | -190 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.50161596327 |
1876.02525779,5807.84483542 |
0 |
| 17 | alternative splice | R.:NENKVDGMNAPK.G | KD | N | 530 | 1 | 1 | EIF4B | E7EX17 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53428489-53428493;53433021-53433059 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 350 | 160 | -190 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.50161596327 |
1876.02525779,5807.84483542 |
0 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 108 | 5 | 1 | CD81 | H0YDJ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YDJ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Targetable-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 119 | 5 | 1 | CD81 | P60033 | 3D-structure;-Complete-proteome;-Disulfide-bond;Host-virus-interaction;-Membrane;-Reference-proteome;-Transmembrane; | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Targetable | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 125 | 5 | 1 | CD81 | E9PIF1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PIF1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Intra-Cellular-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 157 | 5 | 1 | CD81 | A6NMH8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6NMH8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Intra-Cellular-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 48 | 5 | 1 | CD81 | E9PJK1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PJK1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Intra-Cellular-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 112 | 5 | 1 | CD81 | E9PRJ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PRJ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Intra-Cellular-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 18 | alternative splice | V.NKDQ:LDCCGSSTLTALTTSVLK.N | IAKDVKQFYDQALQQAVVDDDANNAKAVVKTFHET | QL | 104 | 5 | 1 | CD81 | H0YDL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YDL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361218, | Membrane-Bound | Atlas | chr11 | 2416261-2416276;2417098-2417155 | 1 | 1 | 19 | 1 | -2 | 0 | 2 | 5715 | 350 | -5365 | Hydrophobic;3.800000 | -1.800000 | - | 38 | 1 | 0 | Intra-Cellular-Peptide | 3.70815222398 |
1659.55921757,5807.84483542 |
0.000000 |
| 19 | alternative splice | L.L:RLYGKDQQEAALVDMVNDGVEDLR.C | G | LR | 78 | 1 | 1 | GSTP1 | P09211 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Mitochondrion;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr11 | 67352034-67352041;67352608-67352682 | 1 | 6 | 5 | 1 | 0 | 1 | 1 | 75 | 395 | 320 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 7.46466686149 |
456.795085832,5807.84483542 |
0.000000 |
| 19 | alternative splice | L.L:RLYGKDQQEAALVDMVNDGVEDLR.C | G | LR | 78 | 1 | 1 | GSTP1 | A8MX94 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8MX94,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 67352034-67352041;67352608-67352682 | 1 | 6 | 5 | 1 | 0 | 1 | 1 | 75 | 395 | 320 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 7.46466686149 |
456.795085832,5807.84483542 |
0.000000 |
| 20 | alternative splice | T.ASQVASTWGG:FDELGGLLKPTVASQNQNLPVAK.L | TPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDS | WGGFD | 119 | 12 | 1 | PICALM | H0YCY1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 85692972-85693046;85707868-85707899 | 1 | 1 | 5 | 1 | -2 | -1 | 1 | 4900 | 765 | -4135 | -3.500000 | Hydrophilic;3.000000 | - | 15 | 1 | 0 | Unknown | 2.89730757944 |
2468.4180256,5807.84483542 |
0 |
| 20 | alternative splice | T.ASQVASTWGG:FDELGGLLKPTVASQNQNLPVAK.L | D | GFDELGGLLKPTVASQNQNLPVAKL | 123 | 10 | 1 | PICALM | H0YEF7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YEF7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 85692972-85693046;85707868-85707899 | 1 | 1 | 5 | 1 | -1 | 0 | 1 | 150 | 3790 | 3640 | -0.400000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 2.89730757944 |
2468.4180256,5807.84483542 |
0 |
| 20 | alternative splice | T.ASQVASTWGG:FDELGGLLKPTVASQNQNLPVAK.L | DPFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFESVFGNKSTNVIVDS | WGG | 420 | 10 | 1 | PICALM | Q13492 | Acetylation;-Alternative-splicing;-Chromosomal-rearrangement;Coated-pit;-Complete-proteome;-Cytoplasmic-vesicle;-Endocytosis;Golgi-apparatus;-Isopeptide-bond;-Membrane;-Nucleus;-Phosphoprotein;Polymorphism;-Proto-oncogene;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 85692972-85693046;85707868-85707899 | 1 | 1 | 5 | 1 | -7 | 0 | 7 | 12810 | 405 | -12405 | -0.400000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 2.89730757944 |
2468.4180256,5807.84483542 |
0 |
| 20 | alternative splice | T.ASQVASTWGG:FDELGGLLKPTVASQNQNLPVAK.L | D | GFDELGGLLKPTVASQNQNLPVAKL | 36 | 10 | 1 | PICALM | H0YD48 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YD48,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 85692972-85693046;85707868-85707899 | 1 | 1 | 5 | 1 | -1 | 0 | 1 | 150 | 3790 | 3640 | -0.400000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 2.89730757944 |
2468.4180256,5807.84483542 |
0 |
| 22 | alternative splice | S.FVTTG:MESAGIHETTYNSIMK.C | AEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFI | TG | 206 | 5 | 2 | ACTA2 | P62736 | Acetylation;-Aortic-aneurysm;-ATP-binding;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Isopeptide-bond;Methylation;-Muscle-protein;-Nucleotide-binding;-Oxidation;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr10 | 90697946-90697999;90700985-90701001 | 1 | 1 | 1 | 1 | -5 | 0 | 5 | 10555 | 215 | -10340 | -0.400000 | 0.000000 | R->Q(inAAT6;dbSNP:rs397516685). R->C(inAAT6;dbSNP:rs121434528). R->H(inAAT6;dbSNP:rs121434527). |
3 | 1 | 0 | Unknown | 7.00492623511 |
518.714641079,5807.84483542 |
0 |
| 25 | alternative splice | G.PQ:HAYEPTPDDVAISYLPLAHMFER.I | EAIVHIVNKADIAMVICDTPQKALVLIGNVEKGFTPSLKVIILMDPFDDDLKQRGEKSGIEILSLYDAENLGKEHFRKPVPPSPEDLSVICFTSGTTGDPKGAMITHQNIVSNAAAFLKCVE | Q | 169 | 2 | 1 | ACSL5 | Q9ULC5 | Acetylation;-Alternative-splicing;-ATP-binding;-Complete-proteome;Endoplasmic-reticulum;-Fatty-acid-metabolism;-Ligase;Lipid-metabolism;-Magnesium;-Membrane;-Mitochondrion;Mitochondrion-outer-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr10 | 114170384-114170393;114171659-114171731 | 1 | 0 | 1 | 1 | -5 | 0 | 5 | 19275 | 180 | -19095 | -3.500000 | Hydrophilic;0.200000 | M->V(indbSNP:rs3736946). | 3 | 17 | 28 | Unknown-Pep-localization | 0.65231937617 |
5041.54762435,5807.84483542 |
0 |
| 28 | alternative splice | T.DK:VNGWDMTMVTHDQAR.K | GIYVTRVSEGGPAEIAGLQIGDKIMQ | KV | 54 | 3 | 2 | TAX1BP3 | O14907 | 3D-structure;-Acetylation;-Cell-membrane;-Complete-proteome;Cytoplasm;-Membrane;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Wnt-signaling-pathway. | Intracellular | Atlas | chr17 | 3567131-3567179;3567972-3567981 | 1 | 1 | 2 | 1 | -1 | 1 | 2 | 3915 | 355 | -3560 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 0 | Unknown | 3.55819746259 |
1723.01864802,5807.84483542 |
0 |
| 30 | alternative splice | W.FTSR:KAALEDTLAETEAR.F | TEELNREVAGHTEQLQMSRSEVTDLRRTLQGLEIELQSQLSM | RK | 99 | 5 | 1 | KRT19 | K7EMS3 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467002,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00466996};Proteomics-identification-{ECO:0000213|PeptideAtlas:K7EMS3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39680204-39680249;39680630-39680645 | 1 | 12 | 2 | 1 | -4 | 2 | 6 | 6965 | 425 | -6540 | -3.900000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0 |
| 30 | alternative splice | W.FTSR:KAALEDTLAETEAR.F | TEELNREVAGHTEQLQMSRSEVTDLRRTLQGLEIELQSQLSM | RK | 275 | 5 | 1 | KRT19 | P08727 | Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Host-virus-interaction;-Intermediate-filament;-Keratin;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 39680204-39680249;39680630-39680645 | 1 | 12 | 2 | 1 | -4 | 2 | 6 | 6965 | 425 | -6540 | -3.900000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0 |
| 31 | alternative splice | Q.Q:VCFACVDGK.E | AAVDGARKANSTRTWKE | Q | 1239 | 1 | 1 | CLTC | Q00610 | 3D-structure;-Acetylation;-Alternative-splicing;-Coated-pit;Complete-proteome;-Cytoplasmic-vesicle;-Direct-protein-sequencing;Membrane;-Phosphoprotein;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr17 | 57759783-57759789;57760267-57760297 | 1 | 7 | 1 | 1 | 2 | 0 | -2 | 2690 | 180 | -2510 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.94265867748 |
927.942723879,5807.84483542 |
0 |
| 31 | alternative splice | Q.Q:VCFACVDGK.E | AAVDGARKANSTRTWKE | Q | 176 | 1 | 1 | CLTC | J3KS13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KS13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 57759783-57759789;57760267-57760297 | 1 | 7 | 1 | 1 | 2 | 0 | -2 | 2690 | 180 | -2510 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.94265867748 |
927.942723879,5807.84483542 |
0 |
| 31 | alternative splice | Q.Q:VCFACVDGK.E | AAVDGARKANSTRTWKE | Q | 1243 | 1 | 1 | CLTC | A0A087WVQ6 | Coated-pit-{ECO:0000256|PIRNR:PIRNR002290};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Cytoplasmic-vesicle-{ECO:0000256|PIRNR:PIRNR002290};Proteomics-identification-{ECO:0000213|EPD:A0A087WVQ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 57759783-57759789;57760267-57760297 | 1 | 7 | 1 | 1 | 2 | 0 | -2 | 2690 | 180 | -2510 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.94265867748 |
927.942723879,5807.84483542 |
0 |
| 32 | alternative splice | R.AGFIQDTSLILYE:VAKTVAQRLN.T | EVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKDDPENDNSELPTAKEYFRDLYHRVDVIFCDKTIPNDPGFVVTLSNRMNYFQ | EV | 737 | 14 | 1 | USP7 | Q93009 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Developmental-protein;-Direct-protein-sequencing;DNA-damage;-DNA-repair;-Host-virus-interaction;-Hydrolase;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Protease;Reference-proteome;-Thiol-protease;-Ubl-conjugation;Ubl-conjugation-pathway. | Intracellular | Atlas | chr16 | 8993012-8993045;8994846-8994888 | 1 | 2 | 10 | 1 | -10 | -1 | 9 | 14320 | 345 | -13975 | Hydrophobic;4.200000 | -1.500000 | - | 28 | 1 | 0 | Unknown | 3.59876339356 |
1791.3162296,5807.84483542 |
0 |
| 32 | alternative splice | R.AGFIQDTSLILYE:VAKTVAQRLN.T | EVKPNLTERIQDYDVSLDKALDELMDGDIIVFQKDDPENDNSELPTAKEYFRDLYHRVDVIFCDKTIPNDPGFVVTLSNRMNYFQ | EV | 638 | 14 | 1 | USP7 | H3BND8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BND8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 8993012-8993045;8994846-8994888 | 1 | 2 | 10 | 1 | -10 | -1 | 9 | 14320 | 345 | -13975 | Hydrophobic;4.200000 | -1.500000 | - | 28 | 1 | 0 | Unknown | 3.59876339356 |
1791.3162296,5807.84483542 |
0 |
| 33 | alternative splice | ?.TS:FIVLTTSAGIMDHEEAR.R | GRLNKCGVISPRFDVQLKDLEKWQNNLLPSRQFG | S | 67 | 1 | 2 | RPS15A | P62244 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr16 | 18794369-18794424;18799384-18799389 | 1 | 2 | 7 | 1 | 3 | 0 | -3 | 5675 | 115 | -5560 | -0.800000 | Hydrophilic;0.300000 | - | 19 | 1 | 0 | Unknown | 4.45095123283 |
1132.30160557,5807.84483542 |
0.000000 |
| 34 | alternative splice | K.D:NAASEGVLASFFNSLLSK.K | N | D | 421 | 1 | 1 | DYNC1LI2 | O43237 | Alternative-splicing;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Dynein;-Microtubule;-Motor-protein;-Nucleotide-binding;Phosphoprotein;-Reference-proteome;-Transport. | Intracellular | Atlas | chr16 | 66759788-66759847;66764014-66764018 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.26096938138 |
2087.35887458,5807.84483542 |
0.000000 |
| 34 | alternative splice | K.D:NAASEGVLASFFNSLLSK.K | N | D | 96 | 1 | 1 | DYNC1LI2 | J3KRI4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KRI4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 66759788-66759847;66764014-66764018 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.26096938138 |
2087.35887458,5807.84483542 |
0.000000 |
| 34 | alternative splice | K.D:NAASEGVLASFFNSLLSK.K | N | D | 47 | 1 | 1 | DYNC1LI2 | J3KRZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KRZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 66759788-66759847;66764014-66764018 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.26096938138 |
2087.35887458,5807.84483542 |
0.000000 |
| 35 | alternative splice | D.GPRTA:GFFDDSFSEAHSEFLK.A | DGIVSHLKKQAGPASVPLRTEEEFKKFISDKDASIV | AG | 122 | 6 | 1 | PDIA3 | P30101 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Isomerase;-Phosphoprotein;-Polymorphism;-Redox-active-center;Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr15 | 44048945-44048964;44055274-44055324 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 5755 | 190 | -5565 | -0.400000 | 0.000000 | - | 12 | 1 | 0 | Unknown | 6.74826512808 |
544.76480535,5807.84483542 |
0.000000 |
| 36 | alternative splice | R.D:VEELIPALDLLCSAIR.E | N | D | 579 | 1 | 1 | SPG11 | Q96JI7 | Alternative-splicing;-Amyotrophic-lateral-sclerosis;-Cell-projection;Charcot-Marie-Tooth-disease;-Complete-proteome;-Cytoplasm;Hereditary-spastic-paraplegia;-Neurodegeneration;-Neuropathy;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr15 | 44921533-44921586;44941063-44941067 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -1.46042310831 |
7367.32485567,5807.84483542 |
0.000000 |
| 36 | alternative splice | R.D:VEELIPALDLLCSAIR.E | N | D | 579 | 1 | 1 | SPG11 | C4B7M2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C4B7M2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 44921533-44921586;44941063-44941067 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -1.46042310831 |
7367.32485567,5807.84483542 |
0.000000 |
| 36 | alternative splice | R.D:VEELIPALDLLCSAIR.E | N | D | 579 | 1 | 1 | SPG11 | H0YN34 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YN34,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 44921533-44921586;44941063-44941067 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -1.46042310831 |
7367.32485567,5807.84483542 |
0.000000 |
| 37 | alternative splice | K.L:MDLLQEFYETTLEALKDAK.N | Q | L | 60 | 1 | 1 | COPS2 | B4DIH5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B4DIH5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 49429574-49429634;49436423-49436429 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 3.43701624298 |
1923.29703444,5807.84483542 |
0 |
| 37 | alternative splice | K.L:MDLLQEFYETTLEALKDAK.N | Q | L | 60 | 1 | 1 | COPS2 | H0YM03 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YM03,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 49429574-49429634;49436423-49436429 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 3.43701624298 |
1923.29703444,5807.84483542 |
0 |
| 37 | alternative splice | K.L:MDLLQEFYETTLEALKDAK.N | Q | L | 124 | 1 | 1 | COPS2 | P61201 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Nucleus;-Phosphoprotein;Reference-proteome;-Signalosome. | Intracellular | Atlas | chr15 | 49429574-49429634;49436423-49436429 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 3.43701624298 |
1923.29703444,5807.84483542 |
0 |
| 37 | alternative splice | K.L:MDLLQEFYETTLEALKDAK.N | Q | L | 124 | 1 | 1 | COPS2 | H0YKU5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 49429574-49429634;49436423-49436429 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 3.43701624298 |
1923.29703444,5807.84483542 |
0 |
| 38 | alternative splice | L.RRA:ELYIAVGISGAIQHLAGMK.D | ASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAP | AE | 14 | 4 | 1 | ETFA | P13804 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Electron-transport;-FAD;Flavoprotein;-Glutaricaciduria;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr15 | 76523679-76523739;76603690-76603702 | 1 | 0 | 1 | 1 | 2 | -1 | -3 | 39485 | 305 | -39180 | -3.500000 | Hydrophilic;3.000000 | G->R(inGA2A;dbSNP:rs119458971). V->G(inGA2A;dbSNP:rs119458969). T->I(indbSNP:rs1801591). T->M(inGA2A;dbSNP:rs119458970). |
3 | 1 | 0 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0 |
| 38 | alternative splice | L.RRA:ELYIAVGISGAIQHLAGMK.D | ASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGVGASRAAVDAGFVPNDMQVGQTGKIVAP | AE | 14 | 4 | 1 | ETFA | H0YLU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76523679-76523739;76603690-76603702 | 1 | 0 | 1 | 1 | 2 | -1 | -3 | 35860 | 305 | -35555 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0 |
| 38 | alternative splice | L.RRA:ELYIAVGISGAIQHLAGMK.D | NLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAP | AE | 14 | 4 | 1 | ETFA | H0YK49 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK49,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76523679-76523739;76603690-76603702 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 23490 | 305 | -23185 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0 |
| 39 | alternative splice | R.Q:VIELPLTNPELFQR.V | E | Q | 107 | 1 | 1 | PSMC6 | H0YJS8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YJS8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 53175528-53175534;53180598-53180643 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.37713544655 |
1206.24251687,5807.84483542 |
0 |
| 39 | alternative splice | R.Q:VIELPLTNPELFQR.V | E | Q | 147 | 1 | 1 | PSMC6 | P62333 | Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Proteasome;-Reference-proteome. | Intracellular | Atlas | chr14 | 53175528-53175534;53180598-53180643 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.37713544655 |
1206.24251687,5807.84483542 |
0 |
| 39 | alternative splice | R.Q:VIELPLTNPELFQR.V | E | Q | 161 | 1 | 1 | PSMC6 | A0A087X2I1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X2I1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 53175528-53175534;53180598-53180643 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.37713544655 |
1206.24251687,5807.84483542 |
0 |
| 39 | alternative splice | R.Q:VIELPLTNPELFQR.V | E | Q | 147 | 1 | 1 | PSMC6 | H0YJC0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YJC0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 53175528-53175534;53180598-53180643 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.37713544655 |
1206.24251687,5807.84483542 |
0 |
| 40 | alternative splice | N.DR:RVVEFASYGDLK.N | NAPPVRTENRLIVENLSSRVSWQDLKDFMRQAGEVTFADAHRPKLNEG | RV | 100 | 4 | 1 | SRSF5 | Q13243 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-mRNA-processing;-mRNA-splicing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-RNA-binding. | Intracellular | Atlas | chr14 | 70235602-70235613;70237711-70237748 | 1 | 0 | 3 | 1 | 0 | 1 | 1 | 7935 | 380 | -7555 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 0 | Unknown | 2.84176804629 |
2507.32016094,5807.84483542 |
0.000000 |
| 41 | alternative splice | D.TDDLKQ:VSHSEDDCLAFK.V | LANGVDRYISKYELDKAFSDRNTLIIYLDK | QV | 128 | 7 | 1 | C3 | M0QYC8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:M0QYC8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 6680235-6680274;6682152-6682173 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 5095 | 335 | -4760 | Hydrophobic;4.200000 | -1.500000 | - | 21 | 1 | 0 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0 |
| 41 | alternative splice | D.TDDLKQ:VSHSEDDCLAFK.V | LANGVDRYISKYELDKAFSDRNTLIIYLDK | QV | 1421 | 7 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6680235-6680274;6682152-6682173 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 5095 | 335 | -4760 | Hydrophobic;4.200000 | -1.500000 | - | 21 | 1 | 0 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0 |
| 42 | alternative splice | D.ICEEQVN:ATFMVFQALAQYQK.D | SLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQ | NA | 1164 | 8 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6685112-6685157;6690639-6690663 | 2 | 5 | 7 | 1 | 3 | 0 | -3 | 17350 | 275 | -17075 | Hydrophobic;1.800000 | -0.500000 | D->N(inC3S). G->D(indbSNP:rs11569534). |
9 | 1 | 0 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0 |
| 43 | alternative splice | G.YDNLFAM:MCNMLGLGDMNADQLASK.L | EIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQ | MM | 104 | 8 | 1 | ASNA1 | O43681 | Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Endoplasmic-reticulum;-Hydrolase;-Metal-binding;-Nucleotide-binding;Nucleus;-Polymorphism;-Reference-proteome;-Transport;-Zinc. | Intracellular | Atlas | chr19 | 12849448-12849472;12858010-12858067 | 1 | 5 | 6 | 1 | -6 | 0 | 6 | 16195 | 370 | -15825 | Hydrophobic;1.900000 | -1.300000 | - | 14 | 1 | 0 | Unknown | 3.97803145555 |
1463.03998357,5807.84483542 |
0 |
| 43 | alternative splice | G.YDNLFAM:MCNMLGLGDMNADQLASK.L | EIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQ | MM | 87 | 8 | 1 | ASNA1 | A0A087WXS7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|HAMAP-Rule:MF_03112};Proteomics-identification-{ECO:0000213|EPD:A0A087WXS7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Zinc-{ECO:0000256|HAMAP-Rule:MF_03112,-ECO:0000256|SAAS:SAAS00419821}. | Intracellular | Atlas | chr19 | 12849448-12849472;12858010-12858067 | 1 | 5 | 6 | 1 | -6 | 0 | 6 | 16195 | 370 | -15825 | Hydrophobic;1.900000 | -1.300000 | - | 14 | 1 | 0 | Unknown | 3.97803145555 |
1463.03998357,5807.84483542 |
0 |
| 45 | alternative splice | L.M:LILVGDHCQLGPVVMCK.K | GAKQ | M | 664 | 1 | 1 | UPF1 | Q92900 | 3D-structure;-Alternative-splicing;-ATP-binding;-Complete-proteome;Cytoplasm;-Helicase;-Hydrolase;-Metal-binding;Nonsense-mediated-mRNA-decay;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-RNA-binding; | Intracellular | Atlas | chr19 | 18967103-18967109;18968128-18968182 | 1 | 7 | 3 | 1 | 1 | 0 | -1 | 570 | 185 | -385 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 3.40489961551 |
1962.74309657,5807.84483542 |
0.000000 |
| 46 | alternative splice | F.AAYFQQ:ILLANFLAQTEALMR.G | GDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHK | QI | 370 | 7 | 2 | GPI | A0A0A0MTS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34884950-34884971;34890111-34890159 | 1 | 5 | 2 | 1 | 2 | 0 | -2 | 11100 | 355 | -10745 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0 |
| 46 | alternative splice | F.AAYFQQ:ILLANFLAQTEALMR.G | GDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHK | QI | 355 | 7 | 2 | GPI | P06744 | 3D-structure;-Acetylation;-Alternative-splicing;-Angiogenesis;Complete-proteome;-Cytokine;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Gluconeogenesis;-Glycolysis;-Growth-factor;Hereditary-hemolytic-anemia;-Isomerase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 34884950-34884971;34890111-34890159 | 1 | 5 | 2 | 1 | 2 | 0 | -2 | 11100 | 355 | -10745 | Hydrophobic;4.500000 | -1.800000 | T->R(inHA-GPID;GPIKinki; H->R(inHA-GPID;severeform;GPI |
3 | 1 | 0 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0 |
| 46 | alternative splice | F.AAYFQQ:ILLANFLAQTEALMR.G | GDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHK | QI | 355 | 7 | 2 | GPI | K7EQ48 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EQ48,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34884950-34884971;34890111-34890159 | 1 | 5 | 2 | 1 | 2 | 0 | -2 | 11100 | 355 | -10745 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0 |
| 47 | alternative splice | A.AKTVFE:ATVLEEMPPFPER.E | LQAPACHENMVKVGGYILGEFGNLIAGDPRSSPPVQFSLLHSKFHLCSVATRALLLSTYIKFINLFPETKATIQGVLRAGSQLRNADVELQQRAVEYLTLSSVASTDVL | EAT | 487 | 8 | 1 | AP2A1 | O95782 | Alternative-splicing;-Cell-membrane;-Coated-pit;-Complete-proteome;Endocytosis;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr19 | 50303386-50303407;50304978-50305020 | 1 | 12 | 1 | 1 | 1 | -1 | -2 | 17205 | 445 | -16760 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 3.62378866523 |
1764.51691369,5807.84483542 |
0 |
| 48 | alternative splice | G.YDNYGGG:NYGPGGSGGSGGYGGR.S | SGNYNDFGNYNQQPSNYGPMKSGNFGGSRNMGGP | NYGGGNYGP | 297 | 11 | 1 | HNRNPA2B1 | P22626 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Methylation;-mRNA-processing;-mRNA-splicing;mRNA-transport;-Nucleus;-Phosphoprotein;-Reference-proteome;-Repeat;Ribonucleoprotein;-RNA-binding;-Secreted;-Spliceosome;-Transport; | Intracellular | Atlas | chr7 | 26232144-26232197;26233194-26233216 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 5030 | 1225 | -3805 | -1.600000 | 0.000000 | D->V(inIBMPFD2;dbSNP:rs397515326). | 3 | 1 | 0 | Unknown | 6.96689960025 |
529.657450698,5807.84483542 |
0 |
| 49 | alternative splice | R.GFGDGYNGYGGGPGG:NYGSGNYNDFGNYNQQPSNYGPMK.S | GNFGGSPGYGGGRGGYGGGGPGYGNQGGGYGGGYDNYG | PGGN | 254 | 16 | 1 | HNRNPA2B1 | P22626 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Methylation;-mRNA-processing;-mRNA-splicing;mRNA-transport;-Nucleus;-Phosphoprotein;-Reference-proteome;-Repeat;Ribonucleoprotein;-RNA-binding;-Secreted;-Spliceosome;-Transport; | Intracellular | Atlas | chr7 | 26232916-26232993;26235466-26235512 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 4680 | 455 | -4225 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 6.96689960025 |
529.657450698,5807.84483542 |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISP | A | 384 | 2 | 1 | ELN | F8WAH6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F8WAH6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 6820 | 115 | -6705 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVG | YA | 340 | 2 | 1 | ELN | B3KRT8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:B3KRT8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 3605 | 345 | -3260 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISP | A | 379 | 2 | 1 | ELN | G3V0G6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:G3V0G6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 6820 | 115 | -6705 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISP | A | 384 | 2 | 1 | ELN | P15502 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Extracellular-matrix;-Hydroxylation;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal;-Williams-Beuren-syndrome. | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 6820 | 115 | -6705 | Hydrophobic;1.800000 | -0.500000 | G->S(indbSNP:rs2071307). | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVG | YA | 348 | 2 | 1 | ELN | G5E950 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:G5E950};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 3605 | 345 | -3260 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISP | A | 384 | 2 | 1 | ELN | E7ENM0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E7ENM0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 6820 | 115 | -6705 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 50 | alternative splice | K.Y:AEAQAAAAAK.A | GARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISP | A | 374 | 2 | 1 | ELN | E7EN65 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E7EN65};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 73469092-73469099;73471001-73471033 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 6820 | 115 | -6705 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 51 | alternative splice | P.GPVGAAGATGARGLV:GEPGVVGAVGTAGPSGPSGLPGER.G | PAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | VGEPGV | 350 | 20 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94039085-94039133;94047035-94047110 | 1 | 1 | 7 | 1 | 4 | -1 | -5 | 35570 | 795 | -34775 | Hydrophobic;4.200000 | -1.500000 | G->S(inOI3). G->E(inOI2). G->V(inOI2). G->E(inOI2). G->C(inOI2;dbSNP:rs72658117). G->L(inOI2;requires2nucleotide G->S(inOI3). Missing(inOI2). A->V(indbSNP:rs414408). G->D(inOI2). G->R(inOI3). G->E(inOI2). N->S(indbSNP:rs41317144). G->R(inOI2). P->A(indbSNP:rs42524). G->C(inOI2). G->V(inOI2). A->T(indbSNP:rs41317153). G->R(inOI2). G->S(inOI2). G->S(inOI). |
12 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 51 | alternative splice | P.GPVGAAGATGARGLV:GEPGVVGAVGTAGPSGPSGLPGER.G | PAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | VGEPGV | 348 | 20 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94039085-94039133;94047035-94047110 | 1 | 1 | 7 | 1 | 4 | -1 | -5 | 35570 | 795 | -34775 | Hydrophobic;4.200000 | -1.500000 | - | 12 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 52 | alternative splice | -.GRAGVM:GPAGPSGPAGK.D |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| MGPA | 420 | 8 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94040236-94040254;94056499-94056535 | 1 | 4 | 3 | 1 | 9 | 0 | -9 | 82405 | 520 | -81885 | Hydrophobic;1.800000 | -0.500000 | G->E(inOI2). G->C(inOI2;dbSNP:rs72658117). G->L(inOI2;requires2nucleotide G->S(inOI3). Missing(inOI2). A->V(indbSNP:rs414408). G->D(inOI2). G->R(inOI3). G->E(inOI2). N->S(indbSNP:rs41317144). G->R(inOI2). P->A(indbSNP:rs42524). G->C(inOI2). G->V(inOI2). A->T(indbSNP:rs41317153). G->R(inOI2). G->S(inOI2). G->S(inOI). G->D(inOI2;dbSNP:rs72658145). G->V(inOI4). G->D(inOI2). G->S(inOI2). G->D(inOI2). Missing(inOI2). G->D(inOI3). G->V(inOI3andOI4). P->H(indbSNP:rs409108). Missing(inOI2). R->Q(inMarfansyndrome; G->D(inOI2). G->C(inOI2). G->C(inOI1). G->C(inOI1;mild). G->R(inOI2). A->G(indbSNP:rs408535). G->V(inOI2). G->S(inOI4;dbSNP:rs72658176). G->C(inOI4). G->R(inOI2). G->V(inOI4). G->S(inOI3). G->R(inOI2). G->C(inOI2). G->D(inOI2). G->S(inOI2). P->PP(inOI2). Missing(inOI2). G->GPPG(inOI4). G->S(inOI3). R->H(indbSNP:rs1800240). G->C(inOI3). G->S(inOI1). G->R(inOI3). G->V(inOI2). G->C(inOI2).{ECO:0000269|Ref.33}. G->D(inOI3andOI4). G->D(inOI2). G->S(inOI3;moderate). G->D(inOI2). G->S(inOI2). G->V(inOI3). G->D(inOI2). P->PVGP(inOI4). G->V(inOI3). G->D(inOI2). G->D(inOI2). G->S(inOI3andOI4;moderate; L->F(indbSNP:rs392609). G->E(inOI2). |
9 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 52 | alternative splice | -.GRAGVM:GPAGPSGPAGK.D |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| MGPA | 418 | 8 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94040236-94040254;94056499-94056535 | 1 | 4 | 3 | 1 | 9 | 0 | -9 | 82405 | 520 | -81885 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 53 | alternative splice | P.GNIGFPGPKGPT:GEPGVVGAVGTAGPSGPSGLPGER.G | DPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | TGE | 503 | 14 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94041955-94041994;94047035-94047110 | 1 | 2 | 11 | 1 | 0 | -1 | -1 | 15640 | 405 | -15235 | -3.500000 | Hydrophilic;3.000000 | G->D(inOI2). G->R(inOI3). G->E(inOI2). N->S(indbSNP:rs41317144). G->R(inOI2). P->A(indbSNP:rs42524). G->C(inOI2). G->V(inOI2). A->T(indbSNP:rs41317153). G->R(inOI2). G->S(inOI2). G->S(inOI). |
21 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 53 | alternative splice | P.GNIGFPGPKGPT:GEPGVVGAVGTAGPSGPSGLPGER.G | DPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | TGE | 501 | 14 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94041955-94041994;94047035-94047110 | 1 | 2 | 11 | 1 | 0 | -1 | -1 | 15640 | 405 | -15235 | -3.500000 | Hydrophilic;3.000000 | - | 21 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 54 | alternative splice | H.GEFGLPGPAGPR:GEPGVVGAVGTAGPSGPSGLPGER.G | RGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | RGEP | 591 | 15 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94044543-94044582;94047035-94047110 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 3950 | 635 | -3315 | -1.600000 | 0.000000 | G->S(inOI2). G->S(inOI). |
3 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 54 | alternative splice | H.GEFGLPGPAGPR:GEPGVVGAVGTAGPSGPSGLPGER.G | RGPPGESGAAGPTGPIGSRGPSGPPGPDGNK | RGEP | 589 | 15 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94044543-94044582;94047035-94047110 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 3950 | 635 | -3315 | -1.600000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 55 | alternative splice | R.GEVGPAGPNGFAGPA:GPSGPVGPAGAVGPR.G | AAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGET | AGP | 731 | 17 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94049708-94049756;94055309-94055357 | 1 | 2 | 496 | 1 | 4 | 0 | -4 | 32500 | 335 | -32165 | -1.600000 | 0.000000 | G->C(inOI1). G->C(inOI1;mild). G->R(inOI2). A->G(indbSNP:rs408535). G->V(inOI2). G->S(inOI4;dbSNP:rs72658176). G->C(inOI4). G->R(inOI2). G->V(inOI4). G->S(inOI3). G->R(inOI2). G->C(inOI2). G->D(inOI2). G->S(inOI2). P->PP(inOI2). Missing(inOI2). G->GPPG(inOI4). G->S(inOI3). R->H(indbSNP:rs1800240). G->C(inOI3). G->S(inOI1). G->R(inOI3). G->V(inOI2). G->C(inOI2).{ECO:0000269|Ref.33}. G->D(inOI3andOI4). G->D(inOI2). G->S(inOI3;moderate). G->D(inOI2). G->S(inOI2). G->V(inOI3). |
87 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 55 | alternative splice | R.GEVGPAGPNGFAGPA:GPSGPVGPAGAVGPR.G | AAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGET | AGP | 729 | 17 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94049708-94049756;94055309-94055357 | 1 | 2 | 496 | 1 | 4 | 0 | -4 | 32500 | 335 | -32165 | -1.600000 | 0.000000 | - | 87 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 56 | alternative splice | K.GPKGENGVVGPTGPVGAAGPA:GPPGPPGPPGPPG.V | NGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQ | AGPAGPP | 768 | 24 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94049894-94049960;94056938-94056980 | 2 | 5 | 54 | 1 | 7 | 0 | -7 | 41655 | 815 | -40840 | -1.600000 | 0.000000 | G->S(inOI3). G->R(inOI2). G->C(inOI2). G->D(inOI2). G->S(inOI2). P->PP(inOI2). Missing(inOI2). G->GPPG(inOI4). G->S(inOI3). R->H(indbSNP:rs1800240). G->C(inOI3). G->S(inOI1). G->R(inOI3). G->V(inOI2). G->C(inOI2).{ECO:0000269|Ref.33}. G->D(inOI3andOI4). G->D(inOI2). G->S(inOI3;moderate). G->D(inOI2). G->S(inOI2). G->V(inOI3). G->D(inOI2). P->PVGP(inOI4). G->V(inOI3). G->D(inOI2). G->D(inOI2). G->S(inOI3andOI4;moderate; L->F(indbSNP:rs392609). G->E(inOI2). Missing(inOI2). G->D(inOI2). R->H(indbSNP:rs530026906). G->C(inOI2). |
9 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 56 | alternative splice | K.GPKGENGVVGPTGPVGAAGPA:GPPGPPGPPGPPG.V | NGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQ | AGPAGPP | 766 | 24 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94049894-94049960;94056938-94056980 | 2 | 5 | 54 | 1 | 7 | 0 | -7 | 41655 | 815 | -40840 | -1.600000 | 0.000000 | - | 9 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 57 | alternative splice | Q.PGHK:GPSGPVGPAGAVGPR.G | ERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGET | KGP | 947 | 6 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94054960-94054975;94055309-94055357 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 4750 | 420 | -4330 | -1.600000 | 0.000000 | G->S(inOI3;moderate). G->D(inOI2). G->S(inOI2). G->V(inOI3). |
3 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 57 | alternative splice | Q.PGHK:GPSGPVGPAGAVGPR.G | ERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGET | KGP | 945 | 6 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94054960-94054975;94055309-94055357 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 4750 | 420 | -4330 | -1.600000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 60 | alternative splice | K.T:EYQEDRNDLVISETELK.Q | WRV | T | 332 | 1 | 1 | CAP2 | P40123 | Acetylation;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Membrane;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr6 | 17514179-17514185;17543067-17543121 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 635 | 140 | -495 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 2.28810863326 |
3067.23021328,5807.84483542 |
0 |
| 60 | alternative splice | K.T:EYQEDRNDLVISETELK.Q | WRV | T | 306 | 1 | 1 | CAP2 | E9PDI2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDI2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 17514179-17514185;17543067-17543121 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 635 | 140 | -495 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 2.28810863326 |
3067.23021328,5807.84483542 |
0 |
| 60 | alternative splice | K.T:EYQEDRNDLVISETELK.Q | WRV | T | 249 | 1 | 1 | CAP2 | A0A087WZ15 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZ15,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 17514179-17514185;17543067-17543121 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 635 | 140 | -495 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 2.28810863326 |
3067.23021328,5807.84483542 |
0 |
| 60 | alternative splice | K.T:EYQEDRNDLVISETELK.Q | WRV | T | 220 | 1 | 1 | CAP2 | B7Z385 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7Z385,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 17514179-17514185;17543067-17543121 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 635 | 140 | -495 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 2.28810863326 |
3067.23021328,5807.84483542 |
0 |
| 60 | alternative splice | K.T:EYQEDRNDLVISETELK.Q | WRV | T | 249 | 1 | 1 | CAP2 | A0A087X0J3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X0J3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 17514179-17514185;17543067-17543121 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 635 | 140 | -495 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 2.28810863326 |
3067.23021328,5807.84483542 |
0 |
| 62 | alternative splice | F.SGPGTPLTGNAATEEE:R.G | V | E | 813 | 16 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75875487-75875495;75887378-75887427 | 1 | 9 | 1 | 1 | 0 | -1 | -1 | 155 | 190 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 62 | alternative splice | F.SGPGTPLTGNAATEEE:R.G | V | E | 813 | 16 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75875487-75875495;75887378-75887427 | 1 | 9 | 1 | 1 | 0 | -1 | -1 | 155 | 190 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 63 | alternative splice | -.GG:TDKTVIGCSGFHGDCLTLTK.I | FSIHTRDSPKCYKL | G | 61 | 1 | 1 | PSMB1 | P20618 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Glycoprotein;-Host-virus-interaction;Hydrolase;-Nucleus;-Phosphoprotein;-Polymorphism;-Protease;Proteasome;-Reference-proteome;-Threonine-protease. | Intracellular | Atlas | chr6 | 170855208-170855272;170862217-170862222 | 1 | 1 | 1 | 1 | 2 | 0 | -2 | 2405 | 75 | -2330 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 5.17900740122 |
827.461647721,5807.84483542 |
0.000000 |
| 64 | alternative splice | Q.ALQDLLSEYMGN:VANLACSISNNEEGVK.L | AGRKERSDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIE | NV | 355 | 13 | 2 | CTNNA1 | G3XAM7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3XAM7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 138163368-138163407;138240037-138240088 | 1 | 4 | 4 | 1 | 3 | 0 | -3 | 13125 | 315 | -12810 | Hydrophobic;4.200000 | -1.500000 | - | 10 | 1 | 0 | Unknown | 4.48036305293 |
1144.35650593,5807.84483542 |
0 |
| 64 | alternative splice | Q.ALQDLLSEYMGN:VANLACSISNNEEGVK.L | AGRKERSDALNSAIDKMTKKTRDLRRQLRKAVMDHVSDSFLETNVPLLVLIEAAKNGNEKEVKEYAQVFREHANKLIE | NV | 355 | 13 | 2 | CTNNA1 | P35221 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-adhesion;Cell-junction;-Cell-membrane;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 138163368-138163407;138240037-138240088 | 1 | 4 | 4 | 1 | 3 | 0 | -3 | 13125 | 315 | -12810 | Hydrophobic;4.200000 | -1.500000 | I->M(inMDPT2;noeffectonVCL- | 10 | 1 | 0 | Unknown | 4.48036305293 |
1144.35650593,5807.84483542 |
0 |
| 66 | alternative splice | K.TQQ:TCMEVLEALYDGSLGDCK.E | SPDKVDYEYSELLLYQNQVLREAGLYREALEHLCTYEKQICDKLAVEETKGELLLQLCRLEDAADVYRGLQERNPENWAYYKGLEKALKPANMLERLKIYEEAWTKYPRGLVPRRLPLNFLSGEKFKECLDKFLRMNFSKGCPPVFNTLRSLYKDKEKVAIIEELVVGYETSLKSCRLFNPNDDGKEEPPTTLLWVQYYLAQHYDKIGQPSIALEYINTAIESTPTLIELFLVKAKIYKHAGNIKEAARWMDEAQALDTADRFINSKCAKYMLKANLIKEAEEMCSKFTREGTSAVENLNEMQCMWFQTECAQAYKAMNKFGEALKKCHEIERHFIEITDDQFDFHTYCMRKITLRSYVDLLKLEDVLRQHPFYFKAARIAIEIYLKLHDNPLTDENKEHEADTANMSDKELKKLRNKQRRAQKKAQIEEEKKNAEKEKQQRNQKKKKDDDDEEIGGPKEELIPEKLAKVETPLEEAIKFLTPLKNLVKNKIETHLFAFEIYFRKEKFLLMLQSVKRAFAIDSSHPWLHECMIRLFNTVCESKDLSDTVRTVLKQEMNRLFGATNPKNFNETFLKRNSDSLPHRLSAAKMVYYLDPSSQKRAIELATTLDESLTNRNL | QQTC | 181 | 5 | 1 | NAA15 | A0A0B4J1W3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0B4J1W3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 140264102-140264114;140309037-140309094 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 105600 | 635 | -104965 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 1 | 0 | Unknown | 2.74447201141 |
2617.60641819,5807.84483542 |
0.000000 |
| 66 | alternative splice | K.TQQ:TCMEVLEALYDGSLGDCK.E | SPDKVDYEYSELLLYQNQVLREAGLYREALEHLCTYEKQICDKLAVEETKGELLLQLCRLEDAADVYRGLQERNPENWAYYKGLEKALKPANMLERLKIYEEAWTKYPRGLVPRRLPLNFLSGEKFKECLDKFLRMNFSKGCPPVFNTLRSLYKDKEKVAIIEELVVGYETSLKSCRLFNPNDDGKEEPPTTLLWVQYYLAQHYDKIGQPSIALEYINTAIESTPTLIELFLVKAKIYKHAGNIKEAARWMDEAQALDTADRFINSKCAKYMLKANLIKEAEEMCSKFTREGTSAVENLNEMQCMWFQTECAQAYKAMNKFGEALKKCHEIERHFIEITDDQFDFHTYCMRKITLRSYVDLLKLEDVLRQHPFYFKAARIAIEIYLKLHDNPLTDENKEHEADTANMSDKELKKLRNKQRRAQKKAQIEEEKKNAEKEKQQRNQKKKKDDDDEEIGGPKEELIPEKLAKVETPLEEAIKFLTPLKNLVKNKIETHLFAFEIYFRKEKFLLMLQSVKRAFAIDSSHPWLHECMIRLFNTAVCESKDLSDTVRTVLKQEMNRLFGATNPKNFNETFLKRNSDSLPHRLSAAKMVYYLDPSSQKRAIELATTLDESLTNRNL | QQTC | 181 | 5 | 1 | NAA15 | Q9BXJ9 | Acetylation;-Alternative-splicing;-Angiogenesis;-Complete-proteome;Cytoplasm;-Developmental-protein;-Differentiation;-Nucleus;Phosphoprotein;-Reference-proteome;-Repeat;-TPR-repeat;-Transcription; | Intracellular | Atlas | chr4 | 140264102-140264114;140309037-140309094 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 105715 | 635 | -105080 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 1 | 0 | Unknown | 2.74447201141 |
2617.60641819,5807.84483542 |
0.000000 |
| 67 | alternative splice | -.AK:ADIMYTGTVDCWR.K | GLVSYPFDTVRRRMMMQSGRKG | K | 225 | 1 | 1 | SLC25A4 | P12235 | Acetylation;-Cardiomyopathy;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Host-virus-interaction;Membrane;-Mitochondrion;-Mitochondrion-inner-membrane;Progressive-external-ophthalmoplegia;-Reference-proteome;-Repeat;S-nitrosylation;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr4 | 186066397-186066404;186067967-186068008 | 1 | 14 | 4 | 1 | 4 | 1 | -3 | 3645 | 200 | -3445 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Targetable-Peptide | 5.68683850371 |
681.383428054,5807.84483542 |
0 |
| 68 | alternative splice | Y.DITNE:EAQSYADDNSLLFMETSAK.T | SFARAKNWVKELQRQASPNIVIALSGNKADLANKRAVDFQ | EEA | 107 | 7 | 1 | RAB5A | P20339 | 3D-structure;-Alternative-splicing;-Cell-membrane;-Cell-projection;Complete-proteome;-Cytoplasm;-Cytoplasmic-vesicle;-Endocytosis;Endosome;-GTP-binding;-Lipoprotein;-Membrane;-Nucleotide-binding;Phagocytosis;-Prenylation;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr3 | 20017226-20017244;20019801-20019861 | 1 | 4 | 6 | 1 | 4 | -2 | -6 | 6515 | 495 | -6020 | Hydrophobic;1.800000 | -0.500000 | - | 13 | 1 | 0 | Unknown | 4.0224855533 |
1423.26334495,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | KRTDYGKLYH | R | 420 | 16 | 1 | CLASP2 | E7ENG2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | 2 | 1 | -1 | 1815 | 225 | -1590 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 409 | 15 | 1 | CLASP2 | O75122 | 3D-structure;-Alternative-splicing;-Cell-cycle;-Cell-division;Cell-membrane;-Cell-projection;-Centromere;-Chromosome;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Golgi-apparatus;Kinetochore;-Membrane;-Microtubule;-Mitosis;-Phosphoprotein;Reference-proteome;-Repeat. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 409 | 15 | 1 | CLASP2 | E3W994 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E3W994,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 415 | 15 | 1 | CLASP2 | A0A0U1RQI6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQI6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 643 | 15 | 1 | CLASP2 | E7EW49 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EW49,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 642 | 15 | 1 | CLASP2 | E7ERI8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ERI8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | EDTSDKLDGTASED | LG | 409 | 15 | 1 | CLASP2 | J3KR49 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KR49,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | -5 | 0 | 5 | 2050 | 245 | -1805 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 69 | alternative splice | R.LGAGALNAGSYASLG:R.V | KRTDYGKLYH | R | 416 | 16 | 1 | CLASP2 | B3KR06 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B3KR06,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 33633980-33633988;33644443-33644489 | 1 | 2 | 2 | 1 | 2 | 1 | -1 | 1815 | 225 | -1590 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 0.552668813628 |
5335.91357556,5807.84483542 |
0 |
| 70 | alternative splice | D.TDPR:EQLSQVLDAMFER.I | VIHPKTDEQRCRLQEACKDILLFKNLDQ | RE | 118 | 5 | 1 | PRKAR2A | P13861 | 3D-structure;-Acetylation;-Alternative-splicing;-cAMP;-cAMP-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;-Membrane;Nucleotide-binding;-Phosphoprotein;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr3 | 48820483-48820525;48831429-48831444 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 4840 | 415 | -4425 | -3.500000 | Hydrophilic;3.000000 | - | 21 | 1 | 0 | Unknown | 3.80683987248 |
1595.80668853,5807.84483542 |
0.000000 |
| 70 | alternative splice | D.TDPR:EQLSQVLDAMFER.I | VIHPKTDEQRCRLQEACKDILLFKNLDQ | RE | 7 | 5 | 1 | PRKAR2A | H7C1L0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C1L0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 48820483-48820525;48831429-48831444 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 4840 | 415 | -4425 | -3.500000 | Hydrophilic;3.000000 | - | 21 | 1 | 0 | Unknown | 3.80683987248 |
1595.80668853,5807.84483542 |
0.000000 |
| 73 | alternative splice | K.PLLIMFYAP:WCGHCK.K | SMCKRMMPHFQKAATQLRGHAVLAGMNVYSSEFENIKEEYSVRGFPTICYFEKGRFLFQYDNYGSTAEDIVEWLKNPQPPQPQVPETPWADEGGSVYHLTDEDFDQFVKEHSSVLVMFH | YAPWCG | 183 | 12 | 1 | PDIA5 | Q14554 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Disulfide-bond;Endoplasmic-reticulum;-Isomerase;-Polymorphism;-Redox-active-center;Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr3 | 122829820-122829851;122864368-122864388 | 1 | 2 | 1 | 1 | -7 | 0 | 7 | 19875 | 955 | -18920 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 3.58174737978 |
1796.54385426,5807.84483542 |
0 |
| 74 | alternative splice | V.L:AFDEAIAELDTLNEDSYKDSTLIMQLLR.D | FYYEILNNPELACTLAKT | L | 177 | 1 | 1 | YWHAQ | P27348 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr2 | 9727551-9727638;9770287-9770293 | 2 | 4 | 12 | 1 | -1 | 0 | 1 | 3045 | 170 | -2875 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 6.8965239992 |
529.980369898,5807.84483542 |
0 |
| 77 | alternative splice | L.E:VGVPAALDMMLTGR.S | PKM | E | 189 | 1 | 1 | HADHA | P40939 | Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Fatty-acid-metabolism;-Lipid-metabolism;-Lyase;Mitochondrion;-Multifunctional-enzyme;-NAD;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr2 | 26453117-26453162;26457084-26457090 | 1 | 1 | 15 | 1 | 1 | -1 | -2 | 530 | 190 | -340 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 5.37863309617 |
758.916617994,5807.84483542 |
0 |
| 78 | alternative splice | I.QAVLSLYASGRTT:GMESAGIHETTYNSIMK.C | IVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFI | TGM | 152 | 15 | 1 | ACTG2 | P63267 | Acetylation;-Alternative-splicing;-ATP-binding;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Isopeptide-bond;Muscle-protein;-Nucleotide-binding;-Oxidation;-Reference-proteome. | Intracellular | Atlas | chr2 | 74136223-74136266;74143710-74143763 | 1 | 14 | 3 | 1 | -8 | 0 | 8 | 19060 | 400 | -18660 | Hydrophobic;1.900000 | -1.300000 | R->C(inVSCM;interfereswithproper R->H(inVSCM;dbSNP:rs587777384). R->L(inVSCM;interfereswithproper G->D(inVSCM). R->C(inVSCM;dbSNP:rs587777387). |
6 | 1 | 0 | Unknown | -1.16439037301 |
7010.55404547,5807.84483542 |
0 |
| 79 | alternative splice | A.FGPQ:IYGTPSSSPYECLR.Q | VSDTLLDCRKHLTWVVAVLQEVAAAAAQLIAPLAENEGLLVAALEELAFKASE | PQI | 823 | 5 | 1 | DCTN1 | Q14203 | 3D-structure;-Alternative-splicing;-Amyotrophic-lateral-sclerosis;Coiled-coil;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Dynein;Microtubule;-Neurodegeneration;-Parkinsonism;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 74593457-74593502;74593909-74593924 | 1 | 6 | 2 | 1 | -5 | 0 | 5 | 8295 | 500 | -7795 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 49 | 166 | Unknown | 3.2064381489 |
2160.30061421,5807.84483542 |
0 |
| 79 | alternative splice | A.FGPQ:IYGTPSSSPYECLR.Q | VSDTLLDCRKHLTWVVAVLQEVAAAAAQLIAPLAENEGLLVAALEELAFKASE | PQI | 806 | 5 | 1 | DCTN1 | E7EX90 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74593457-74593502;74593909-74593924 | 1 | 6 | 2 | 1 | -5 | 0 | 5 | 8295 | 500 | -7795 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 49 | 166 | Unknown | 3.2064381489 |
2160.30061421,5807.84483542 |
0 |
| 80 | alternative splice | G.WKGMT:DKLSTDDLNSLIAHAHR.R | SVSDLA | T | 243 | 5 | 1 | IMMT | H7C463 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:H7C463,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86378587-86378643;86385714-86385730 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 820 | 140 | -680 | -0.700000 | -0.400000 | - | 3 | 61 | 180 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 80 | alternative splice | G.WKGMT:DKLSTDDLNSLIAHAHR.R | SVSDLA | T | 388 | 5 | 1 | IMMT | Q16891 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide;-Transmembrane; | Membrane-Bound | Atlas | chr2 | 86378587-86378643;86385714-86385730 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 820 | 140 | -680 | -0.700000 | -0.400000 | - | 3 | 61 | 180 | Mitochondrial intermembrane | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 80 | alternative splice | G.WKGMT:DKLSTDDLNSLIAHAHR.R | SVSDLA | T | 289 | 5 | 1 | IMMT | C9J406 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:C9J406,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86378587-86378643;86385714-86385730 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 820 | 140 | -680 | -0.700000 | -0.400000 | - | 3 | 61 | 180 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 80 | alternative splice | G.WKGMT:DKLSTDDLNSLIAHAHR.R | SVSDLA | T | 341 | 5 | 1 | IMMT | B9A067 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:B9A067,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86378587-86378643;86385714-86385730 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 820 | 140 | -680 | -0.700000 | -0.400000 | - | 3 | 61 | 180 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 81 | alternative splice | K.TTCMSSQGSDDEQI:GKL.E | KRENIRSLTMSGHVGFESLPDQLVNRSIQQGFCFNILCVGETGIGKSTLIDTLFNTNFEDYESSHFCPNVKLKAQTYELQESNVQLKLTIVNTVGFGDQINKEESYQPIVDYIDAQFEAYLQEELKIKRSLFTYHDSRIHVCLYFISPTGHSLKTLDLLTMKNLDSKVNIIPVIAKADTVSKTELQKFKIKLMSELVSNGVQIYQFPTDDDTIAKVNAAMNGQLPFAVVGSMDEVKVGNKMVKARQYPWGVVQVENENHCDFVKLREMLICTNMEDLREQTHTRHYELYRRC | G | 34 | 15 | 1 | SEPT10 | B5ME97 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B5ME97,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 110342886-110342898;110350627-110350672 | 1 | 0 | 7 | 1 | -5 | 0 | 5 | 48440 | 75 | -48365 | -0.400000 | 0.000000 | - | 8 | 1 | 0 | Unknown | 2.48251259656 |
2920.73548065,5807.84483542 |
0 |
| 81 | alternative splice | K.TTCMSSQGSDDEQI:GKL.E | KRENIRSLTMSGHVGFESLPDQLVNRSIQQGFCFNILCVGETGIGKSTLIDTLFNTNFEDYESSHFCPNVKLKAQTYELQESNVQLKLTIVNTVGFGDQINKEESYQPIVDYIDAQFEAYLQEELKIKRSLFTYHDSRIHVCLYFISPTGHSLKTLDLLTMKNLDSKVNIIPVIAKADTVSKTELQKFKIKLMSELVSNGVQIYQFPTDDDTIAKVNAAMNGQLPFAVVGSMDEVKVGNKMVKARQYPWGVVQVENENHCDFVKLREMLICTNMEDLREQTHTRHYELYRRC | G | 34 | 15 | 1 | SEPT10 | E7EW69 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EW69,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 110342886-110342898;110350627-110350672 | 1 | 0 | 7 | 1 | -5 | 0 | 5 | 48440 | 75 | -48365 | -0.400000 | 0.000000 | - | 8 | 1 | 0 | Unknown | 2.48251259656 |
2920.73548065,5807.84483542 |
0 |
| 81 | alternative splice | K.TTCMSSQGSDDEQI:GKL.E | KRENIRSLTMSGHVGFESLPDQLVNRSIQQGFCFNILCVGETGIGKSTLIDTLFNTNFEDYESSHFCPNVKLKAQTYELQESNVQLKLTIVNTVGFGDQINKEESYQPIVDYIDAQFEAYLQEELKIKRSLFTYHDSRIHVCLYFISPTGHSLKTLDLLTMKNLDSKVNIIPVIAKADTVSKTELQKFKIKLMSELVSNGVQIYQFPTDDDTIAKVNAAMNGQLPFAVVGSMDEVKVGNKMVKARQYPWGVVQVENENHCDFVKLREMLICTNMEDLREQTHTRHYELYRRC | G | 19 | 15 | 1 | SEPT10 | E7EX04 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX04,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 110342886-110342898;110350627-110350672 | 1 | 0 | 7 | 1 | -5 | 0 | 5 | 48440 | 75 | -48365 | -0.400000 | 0.000000 | - | 8 | 1 | 0 | Unknown | 2.48251259656 |
2920.73548065,5807.84483542 |
0 |
| 81 | alternative splice | K.TTCMSSQGSDDEQI:GKL.E | KRENIRSLTMSGHVGFESLPDQLVNRSIQQGFCFNILCVGETGIGKSTLIDTLFNTNFEDYESSHFCPNVKLKAQTYELQESNVQLKLTIVNTVGFGDQINKEESYQPIVDYIDAQFEAYLQEELKIKRSLFTYHDSRIHVCLYFISPTGHSLKTLDLLTMKNLDSKVNIIPVIAKADTVSKTELQKFKIKLMSELVSNGVQIYQFPTDDDTIAKVNAAMNGQLPFAVVGSMDEVKVGNKMVKARQYPWGVVQVENENHCDFVKLREMLICTNMEDLREQTHTRHYELYRRC | G | 34 | 15 | 1 | SEPT10 | Q9P0V9 | Alternative-splicing;-Cell-cycle;-Cell-division;-Complete-proteome;Cytoplasm;-Cytoskeleton;-GTP-binding;-Nucleotide-binding;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 110342886-110342898;110350627-110350672 | 1 | 0 | 7 | 1 | -5 | 0 | 5 | 48440 | 75 | -48365 | -0.400000 | 0.000000 | L->P(indbSNP:rs3829701). | 8 | 1 | 0 | Unknown | 2.48251259656 |
2920.73548065,5807.84483542 |
0 |
| 82 | alternative splice | R.VKEENPE:GPPNANEDYR.E | IAVSASTIPEQIQSLSVHDSQ | EG | 415 | 8 | 1 | STK39 | Q9UEW8 | Acetylation;-Alternative-splicing;-ATP-binding;-Complete-proteome;Cytoplasm;-Kinase;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Reference-proteome;-Serine/threonine-protein-kinase;-Transferase. | Intracellular | Atlas | chr2 | 168920047-168920080;168931491-168931515 | 1 | 1 | 1 | 1 | -2 | -1 | 1 | 3170 | 265 | -2905 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 1.25083533134 |
4377.64560666,5807.84483542 |
0 |
| 83 | alternative splice | K.NGETGPQGPPGPT:GPKGDA.G | GGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEP | TGPK | 626 | 16 | 1 | COL3A1 | P02461 | 3D-structure;-Alternative-splicing;-Aortic-aneurysm;-Calcium;Collagen;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr2 | 189862073-189862115;189863399-189863420 | 1 | 1 | 15 | 1 | -2 | 1 | 3 | 4355 | 560 | -3795 | -3.900000 | Hydrophilic;3.000000 | P->L.{ECO:0000269|PubMed:8255472}. G->R(inEDS4). G->E(inEDS4). |
1 | 1 | 0 | Unknown | 2.79295607316 |
2551.50108792,5807.84483542 |
0.000000 |
| 84 | alternative splice | R.GPEGPPGKPGED:GEAGPT.G | PGRNGNPGEVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSK | DGEA | 269 | 15 | 1 | COL5A2 | P05997 | 3D-structure;-Calcium;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr2 | 189943812-189943833;189949885-189949924 | 1 | 0 | 2 | 1 | 4 | -2 | -6 | 7120 | 530 | -6590 | Hydrophobic;1.800000 | -0.500000 | - | 12 | 1 | 0 | Unknown | 1.08149605491 |
4641.92486716,5807.84483542 |
0.000000 |
| 84 | alternative splice | R.GPEGPPGKPGED:GEAGPT.G | PGRNGNPGEVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSK | DGEA | 59 | 15 | 1 | COL5A2 | A0A087WYX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WYX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 189943812-189943833;189949885-189949924 | 1 | 0 | 2 | 1 | 4 | -2 | -6 | 7120 | 530 | -6590 | Hydrophobic;1.800000 | -0.500000 | - | 12 | 1 | 0 | Unknown | 1.08149605491 |
4641.92486716,5807.84483542 |
0.000000 |
| 85 | alternative splice | Y.SQLRD:QCQDSETGTFYQIGDSWEK.Y | IVDDITYNVNDTFHKRHEEGHMLNCTCFGQGRGRWKCDPV | RDQCQ | 519 | 8 | 1 | FN1 | P02751 | 3D-structure;-Acute-phase;-Alternative-splicing;-Angiogenesis;Cell-adhesion;-Cell-shape;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Heparin-binding;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr2 | 216284046-216284108;216286813-216286829 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 6645 | 870 | -5775 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0 |
| 86 | alternative splice | -.QSIE:LEFGAGDLQGPLFGLK.L | APLTATDTAILSGSLSTQNGNGGGSINFALRRVTSAKGWG | IEL | 170 | 4 | 1 | DNAJC11 | Q9NVH1 | Acetylation;-Alternative-splicing;-Chaperone;-Coiled-coil;Complete-proteome;-Mitochondrion;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr1 | 6711611-6711662;6713970-6713982 | 1 | 1 | 1 | 1 | 2 | -1 | -3 | 5630 | 535 | -5095 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.81892450876 |
2539.04633646,5807.84483542 |
0 |
| 86 | alternative splice | -.QSIE:LEFGAGDLQGPLFGLK.L | APLTATDTAILSGSLSTQNGNGGGSINFALRRVTSAKGWG | IEL | 146 | 4 | 1 | DNAJC11 | Q5TH61 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TH61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 6711611-6711662;6713970-6713982 | 1 | 1 | 1 | 1 | 2 | -1 | -3 | 5630 | 535 | -5095 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.81892450876 |
2539.04633646,5807.84483542 |
0 |
| 88 | alternative splice | -.IS:ICGSCAMNINGGNTLACTR.R | KNEVDSTLTFRRSCREG | S | 80 | 1 | 1 | SDHB | P21912 | 2Fe-2S;-3Fe-4S;-4Fe-4S;-Acetylation;-Complete-proteome;Disease-mutation;-Electron-transport;-Iron;-Iron-sulfur;-Membrane;Metal-binding;-Mitochondrion;-Mitochondrion-inner-membrane;Oxidoreductase;-Polymorphism;-Reference-proteome;-Transit-peptide;Transport;-Tricarboxylic-acid-cycle. | Intracellular | Atlas | chr1 | 17355169-17355231;17371255-17371259 | 1 | 3 | 4 | 1 | 1 | 0 | -1 | 2820 | 115 | -2705 | -0.800000 | Hydrophilic;0.300000 | L->S(inPCC;dbSNP:rs727504457). | 1 | 1 | 0 | Unknown | 4.51803077359 |
1092.67794738,5807.84483542 |
0 |
| 88 | alternative splice | -.IS:ICGSCAMNINGGNTLACTR.R | KNEVDSTLTFRRSCREG | S | 23 | 1 | 1 | SDHB | A0A087WXX8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXX8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 17355169-17355231;17371255-17371259 | 1 | 3 | 4 | 1 | 1 | 0 | -1 | 2820 | 115 | -2705 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 0 | Unknown | 4.51803077359 |
1092.67794738,5807.84483542 |
0 |
| 88 | alternative splice | -.IS:ICGSCAMNINGGNTLACTR.R | KNEVDSTLTFRRSCREG | S | 66 | 1 | 1 | SDHB | A0A087WWT1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU361237};Proteomics-identification-{ECO:0000213|EPD:A0A087WWT1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 17355169-17355231;17371255-17371259 | 1 | 3 | 4 | 1 | 1 | 0 | -1 | 2820 | 115 | -2705 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 0 | Unknown | 4.51803077359 |
1092.67794738,5807.84483542 |
0 |
| 90 | alternative splice | K.THIEVTVPTSNGDQTQ:DLDK.S | KLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLE | QD | 635 | 17 | 1 | EPB41 | P11171 | 3D-structure;-Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Elliptocytosis;-Glycoprotein;-Hereditary-hemolytic-anemia;-Nucleus;Phosphoprotein;-Polymorphism;-Pyropoikilocytosis;-Reference-proteome. | Intracellular | Atlas | chr1 | 29385106-29385157;29391493-29391508 | 1 | 3 | 2 | 1 | 3 | -1 | -4 | 6310 | 330 | -5980 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 84 | 800 | Unknown | 1.88351841455 |
3588.74694545,5807.84483542 |
0 |
| 91 | alternative splice | K.DG:YELSPTAAANFTR.R | DHDKMFKMSEKILLLCVGEAGDTVQFAEYIQKNVQLYKMRN | DG | 31 | 2 | 1 | PSMB2 | P49721 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Host-virus-interaction;-Hydrolase;-Nucleus;Protease;-Proteasome;-Reference-proteome;-Threonine-protease. | Intracellular | Atlas | chr1 | 36096901-36096945;36106942-36106949 | 1 | 1 | 5 | 1 | 0 | -1 | -1 | 7000 | 225 | -6775 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 4.5715235786 |
1082.10864767,5807.84483542 |
0.000000 |
| 92 | alternative splice | V.ENNDNID:ENYVQAVEEFQSCLNLQEQYLEAHDR.L | TEGSEEDDKENDKTEEMPNDSVLENKSLQENEEEEIGNLELAWDMLDLAKIIFKRQETKEAQLYAAQAHLKLGEVSVES | DEN | 138 | 9 | 1 | NASP | E9PI86 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PI86,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46072238-46072263;46080684-46080764 | 1 | 0 | 1 | 1 | -15 | -2 | 13 | 13110 | 500 | -12610 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.73174754567 |
1666.30526709,5807.84483542 |
0.000000 |
| 92 | alternative splice | V.ENNDNID:ENYVQAVEEFQSCLNLQEQYLEAHDR.L | TEGSEEDDKENDKTEEMPNDSVLENKSLQENEEEEIGNLELAWDMLDLAKIIFKRQETKEAQLYAAQAHLKLGEVSVES | DEN | 111 | 9 | 1 | NASP | Q5T624 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T624,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46072238-46072263;46080684-46080764 | 1 | 0 | 1 | 1 | -15 | -2 | 13 | 13110 | 500 | -12610 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.73174754567 |
1666.30526709,5807.84483542 |
0.000000 |
| 92 | alternative splice | V.ENNDNID:ENYVQAVEEFQSCLNLQEQYLEAHDR.L | EAREELREQVYDAMGEKEEAKKTEDKSLAKPETDKEQDSEMEKGGREDMDISKSAEEPQEKVDLTLDWLTETSEEAKGGAAPEGPNEAEVTSGKPEQEVPDAEEEKSVSGTDVQEECREKGGQEKQGEVIVSIEEKPKEVSEEQPVVTLEKQGTAVEVEAESLDPTVKPVDVGGDEPEEKVVTSENEAGKAVLEQLVGQEVPPAEESPEVTTEAAEASAVEAGSEVSEKPGQEAPVLPKDGAVNGPSVVGDQTPIEPQTSIERLTETKDGSGLEEKVRAKLVPSQEETKLSVEESEAAGDGVDTKVAQGATEKSPEDKVQIAANEETQEREEQMKEGEETEGSEEDDKENDKTEEMPNDSVLENKSLQENEEEEIGNLELAWDMLDLAKIIFKRQETKEAQLYAAQAHLKLGEVSVES | DEN | 138 | 9 | 1 | NASP | P49321 | Acetylation;-Alternative-splicing;-Cell-cycle;-Coiled-coil;Complete-proteome;-Cytoplasm;-DNA-replication;-Isopeptide-bond;Nucleus;-Phosphoprotein;-Polymorphism;-Protein-transport;Reference-proteome;-Repeat;-TPR-repeat;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 46072238-46072263;46080684-46080764 | 1 | 0 | 1 | 1 | -74 | -2 | 72 | 66420 | 500 | -65920 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.73174754567 |
1666.30526709,5807.84483542 |
0.000000 |
| 92 | alternative splice | V.ENNDNID:ENYVQAVEEFQSCLNLQEQYLEAHDR.L | TEGSEEDDKENDKTEEMPNDSVLENKSLQENEEEEIGNLELAWDMLDLAKIIFKRQETKEAQLYAAQAHLKLGEVSVES | DEN | 74 | 9 | 1 | NASP | E9PRH9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PRH9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46072238-46072263;46080684-46080764 | 1 | 0 | 1 | 1 | -15 | -2 | 13 | 13110 | 500 | -12610 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.73174754567 |
1666.30526709,5807.84483542 |
0.000000 |
| 93 | alternative splice | R.GPITRT:QIDEELLGDGHSYSPR.A | NPMVTGTSVLGVKFEGGVVIAADMLGSYGSLARFRNISRIMRVNNSTMLGASGDYADFQYLKQVLGQMV | QI | 48 | 8 | 1 | PSMB4 | P28070 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Host-virus-interaction;-Hydrolase;-Nucleus;Phosphoprotein;-Polymorphism;-Protease;-Proteasome;Reference-proteome;-Threonine-protease;-Zymogen. | Intracellular | Atlas | chr1 | 151372180-151372203;151372917-151372966 | 1 | 0 | 12 | 1 | 2 | 0 | -2 | 10655 | 355 | -10300 | Hydrophobic;4.500000 | -1.800000 | M->I(indbSNP:rs1804241). | 1 | 1 | 0 | Unknown | 4.32525881544 |
1232.24072681,5807.84483542 |
0 |
| 94 | alternative splice | V.EL:SSYQTEIGQTLDLLTAPQGNVDLVR.F | LQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELFLQ | LS | 161 | 3 | 1 | FDPS | P14324 | 3D-structure;-Acetylation;-Alternative-splicing;Cholesterol-biosynthesis;-Cholesterol-metabolism;-Complete-proteome;Cytoplasm;-Disease-mutation;-Host-virus-interaction;Isoprene-biosynthesis;-Lipid-biosynthesis;-Lipid-metabolism;Magnesium;-Metal-binding;-Polymorphism;-Reference-proteome;Steroid-biosynthesis;-Steroid-metabolism;-Sterol-biosynthesis;Sterol-metabolism;-Transferase. | Intracellular | Atlas | chr1 | 155282177-155282186;155288455-155288533 | 1 | 0 | 1 | 1 | -2 | 0 | 2 | 11480 | 285 | -11195 | -0.800000 | Hydrophilic;0.300000 | R->Q(inPOROK9). | 1 | 1 | 0 | Unknown | 3.53791645 |
1825.53099291,5807.84483542 |
0.000000 |
| 94 | alternative splice | V.EL:SSYQTEIGQTLDLLTAPQGNVDLVR.F | LQAFFLVADDIMDSSLTRRGQICWYQKPGVGLDAINDANLLEACIYRLLKLYCREQPYYLNLIELFLQ | LS | 161 | 3 | 1 | FDPS | A0A087WVN4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVN4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 155282177-155282186;155288455-155288533 | 1 | 0 | 1 | 1 | -2 | 0 | 2 | 11480 | 285 | -11195 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 0 | Unknown | 3.53791645 |
1825.53099291,5807.84483542 |
0.000000 |
| 96 | alternative splice | A.VAAENEE:VSHVLAALQAGNR.G | IGSHIKHRVQELGHGCAALVTKAGALQCSPSDAYTKKELIECARRVSEK | EV | 1912 | 8 | 1 | TLN1 | Q9Y490 | 3D-structure;-Acetylation;-Cell-junction;-Cell-membrane;Cell-projection;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Host-virus-interaction;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr9 | 35704453-35704495;35705547-35705571 | 1 | 8 | 1 | 1 | 3 | -1 | -4 | 7710 | 345 | -7365 | Hydrophobic;4.200000 | -1.500000 | R->W(indbSNP:rs17854239). | 6 | 10 | 12 | Unknown | 4.74851233153 |
991.711732047,5807.84483542 |
0 |
| 98 | alternative splice | R.QEQIDN:QYHSLLELGEK.R | TRITKEAGSVSLRMKQVEEL | QY | 1053 | 8 | 1 | SPTAN1 | Q13813 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-splicing;-Calcium;-Calmodulin-binding;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epilepsy;-Mental-retardation;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-SH3-domain. | Intracellular | Atlas | chr9 | 131353881-131353904;131356453-131356487 | 2 | 6 | 37 | 1 | 1 | 0 | -1 | 3310 | 410 | -2900 | -1.300000 | -2.300000 | - | 18 | 65 | 1525 | Unknown | 4.66286950816 |
1044.54735409,5807.84483542 |
0.000000 |
| 98 | alternative splice | R.QEQIDN:QYHSLLELGEK.R | TRITKEAGSVSLRMKQVEEL | QY | 1053 | 8 | 1 | SPTAN1 | A0A0D9SGF6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0D9SGF6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}. | Intracellular | Atlas | chr9 | 131353881-131353904;131356453-131356487 | 2 | 6 | 37 | 1 | 1 | 0 | -1 | 3310 | 410 | -2900 | -1.300000 | -2.300000 | - | 18 | 65 | 1525 | Unknown | 4.66286950816 |
1044.54735409,5807.84483542 |
0.000000 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEMWNEVHEEKEQAAKQSVSCDECIPLPRAGHCAPSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 44 | 4 | 1 | PPP2R4 | Q5T949 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T949,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -5 | -1 | 4 | 17615 | 370 | -17245 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEMWNEVHEEKEQAAKQSVSCDECIPLPRAGHCAPSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 44 | 4 | 1 | PPP2R4 | Q5T948 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T948,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -5 | -1 | 4 | 17615 | 370 | -17245 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 9 | 4 | 1 | PPP2R4 | A6PVN9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVN9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -1 | -1 | 0 | 11975 | 370 | -11605 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 9 | 4 | 1 | PPP2R4 | A6PVN8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVN8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -1 | -1 | 0 | 11975 | 370 | -11605 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | VPFGTVAYADYIGFILTLNEGVKGKKLTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 61 | 4 | 1 | PPP2R4 | A6PVN6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVN6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -1 | -1 | 0 | 12855 | 370 | -12485 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEMWNEVHEEKEQAAKQSVSCDECIPLPRAGHCAPSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 44 | 4 | 1 | PPP2R4 | Q15257 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-Isomerase;Nucleotide-binding;-Nucleus;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -5 | -1 | 4 | 17615 | 370 | -17245 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | AYADYIGFILTLNEGVKGKKLTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 9 | 4 | 1 | PPP2R4 | F6WIT2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6WIT2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -1 | -1 | 0 | 11975 | 370 | -11605 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 99 | alternative splice | K.RSQ:EAENLVATVVPTHLAAAVPEVAVYLK.E | VPFGTVAYADYIGFILTLNEGVKGKKLTFEYRVSEAIEKLVALLNTLDRWIDETPPVDQPSRFGNKAYRTWYAKLDE | QE | 44 | 4 | 1 | PPP2R4 | A6PVN5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 131882877-131882889;131893800-131893881 | 1 | 1 | 19 | 1 | -1 | -1 | 0 | 12855 | 370 | -12485 | -3.500000 | Hydrophilic;3.000000 | - | 22 | 1 | 0 | Unknown | 3.20982535031 |
2145.87718446,5807.84483542 |
0 |
| 100 | alternative splice | Q.Q:LIPEFYGDDVSFLVNSLK.L | NGRFDNADRMFNSIAETWKNCLDGATDFKE | Q | 415 | 1 | 1 | NSMAF | Q92636 | Alternative-splicing;-Complete-proteome;-Polymorphism;Reference-proteome;-Repeat;-WD-repeat. | Intracellular | Atlas | chr8 | 59512372-59512429;59513843-59513849 | 1 | 0 | 1 | 1 | -2 | 0 | 2 | 4910 | 180 | -4730 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | -1.600726469 |
7530.94663869,5807.84483542 |
0 |
| 101 | alternative splice | I.RKE:NGVNGTLTSNVADSPR.N | KSTKSPPVLSHEFVLQNHADIVSCVAMVFLLGLMFEITAKASIIFVTLQYNVTLPATEEQATESVSLYYYGIKDLATVFFYMLVAIIIHAVIQEYMLDKINRRMHFSKTKHSKFNESGQLSAFYLFACVWGTFILISENYISDPTILWRAYPHNLMTFQMKFFYISQLAYWLHAFPELYFQKTKKEDIPRQLVYIGLYLFHIAGAYLLNLNHLGLVLLVLHYFVEFLFHISRLFYFSNEKYQKGFSLWAVLFVLGRLLTLILSVLTVGFGLARAENQKLDFSTGNFNVLAVRIAVLASICVTQAFMMWKFINFQLRRWREHSAFQAPAVKKKPTVTKGRSSKKGT | KE | 6 | 3 | 1 | TRAM1 | Q15629 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Glycoprotein;-Host-virus-interaction;-Membrane;-Phosphoprotein;Protein-transport;-Reference-proteome;-Translocation;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr8 | 71487187-71487240;71499129-71499139 | 1 | 0 | 1 | 1 | 14 | 0 | -14 | 58205 | 390 | -57815 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Lumenal | 1.7863358719 |
3660.99498994,5807.84483542 |
0 |
| 104 | alternative splice | R.TPQ:VEVQDGPNEDGEMFMRPGK.L | AVALSSKSGLSRGRKVMLSALGMLAAGGAGLAMALHSAVSASDLELHPPSYPWSHRGLLSSLDHTSIRRGFQVYKQVCASCHSMDFVAYRHLVGVCYTEDEAKELAAE | QV | 44 | 4 | 1 | CYC1 | P08574 | Complete-proteome;-Disease-mutation;-Electron-transport;-Heme;-Iron;Membrane;-Metal-binding;-Mitochondrion;-Mitochondrion-inner-membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Respiratory-chain;Transit-peptide;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr8 | 145150119-145150131;145151239-145151299 | 1 | 10 | 1 | 1 | 1 | 0 | -1 | 16605 | 335 | -16270 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs7820984). L->V.{ECO:0000269|PubMed:10453733, W->C(inMC3DN6;dbSNP:rs587777041). |
3 | 1 | 0 | Intra-Cellular-Peptide | 5.08584884674 |
858.656732171,5807.84483542 |
0 |
| 510 | insertion | K.VSVAI:EEDLEPENGILELETK.S | IED | EE | 1532 | 7 | 1 | AKAP12 | Q02952 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Isopeptide-bond;-Lipoprotein;-Membrane;-Myristate;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 151674098-151674116;I3;151674116-151674164 | 2 | 28 | 24 | 1 | -2 | -2 | 0 | 515 | 380 | -135 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 53 | 3410 | Unknown | 2.80400543872 |
2489.55973287,5807.84483542 |
4.172908 |
| 511 | insertion | K.TTIPEE:EEEEEEEAAGVVVEEELFHQQ:GTPR.A | PEEEEEEEEA | EEEEEEEEE | 560 | 13 | 1 | LMNB1 | P20700 | 3D-structure;-Acetylation;-Chromosomal-rearrangement;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Intermediate-filament;-Isopeptide-bond;-Leukodystrophy;-Lipoprotein;Membrane;-Methylation;-Nucleus;-Phosphoprotein;-Polymorphism;Prenylation;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 126168412-126168433;I3;126168433-126168493;126171914-126171929 | 2 | 0 | 27 | 1 | -8 | -9 | -1 | 1780 | 1710 | -70 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 74 | Unknown | 5.47972488868 |
725.129351402,5807.84483542 |
0.000000 |
| 512 | insertion | K.SS:GGGGGGGGSSWGGR.S | KSG | SS | 271 | 2 | 1 | HNRNPA0 | Q13151 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Isopeptide-bond;-Methylation;-Nucleus;-Phosphoprotein;Reference-proteome;-Repeat;-Ribonucleoprotein;-RNA-binding; | Intracellular | Atlas | chr5 | 137088900-137088945;I3;137088945-137088951 | 2 | 13 | 86 | 1 | 1 | 0 | -1 | 390 | 230 | -160 | -0.800000 | Hydrophilic;0.300000 | - | 9 | 4 | 938 | Unknown | 4.5714566519 |
1098.4721191,5807.84483542 |
0.000000 |
| 513 | insertion | R.SPPVGSGPASGVEPTSFPVESEAR:.D | VME | R | 110 | 24 | 1 | SRA1 | Q9HD15 | 3D-structure;-Activator;-Apoptosis;-Complete-proteome;-Cytoplasm;Nucleus;-Phosphoprotein;-Polymorphism;-Receptor;-Reference-proteome;Ribonucleoprotein;-Transcription;-Transcription-regulation. | Intracellular | Atlas | chr5 | 139931624-139931629;I1;139931629-139931701 | 1 | 0 | 1 | 1 | -1 | 1 | 2 | 530 | 225 | -305 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 39 | 6755 | Unknown | 1.42471911916 |
3907.42423292,5807.84483542 |
0.000000 |
| 514 | insertion | R.KPEEEEEEEE:LEETAQEK.K | PEEEEEEEL | EEEEEEEE | 71 | 10 | 1 | RRP9 | O43818 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Ribonucleoprotein;-RNA-binding;-rRNA-processing;-WD-repeat. | Intracellular | Atlas | chr3 | 51972153-51972180;I3;51972180-51972210 | 1 | 1 | 5 | 1 | -7 | -8 | -1 | 1645 | 1520 | -125 | -3.500000 | Hydrophilic;3.000000 | - | 12 | 1 | 121 | Unknown | 1.93416579307 |
3511.93775487,5807.84483542 |
0.000000 |
| 577 | novel splice | K.EN:EQGEVDMESHR.N | A | NE | 159 | 3 | 1 | CD99 | P14209 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chrX | 2644404-2644414;2656243-2656278 | 2 | 0 | 53 | 1 | 0 | -1 | -1 | 115 | 350 | 235 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 67 | 5351 | Intra-Cellular-Peptide | 1.93863137046 |
3355.15661407,5807.84483542 |
0.000000 |
| 581 | novel splice | K.EVIYDMLNALAAYHAPEED:K.S | A | ED | 1962 | 19 | 1 | HUWE1 | Q7Z6Z7 | 3D-structure;-Acetylation;-Alternative-splicing;Chromosomal-rearrangement;-Complete-proteome;-Cytoplasm;Differentiation;-Disease-mutation;-DNA-damage;-DNA-repair;DNA-binding;-Ligase;-Mental-retardation;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation-pathway. | Intracellular | Atlas | chrX | 53602737-53602745;53603859-53603917 | 1 | 2 | 4 | 1 | 0 | -2 | -2 | 115 | 340 | 225 | -3.500000 | Hydrophilic;3.000000 | - | 12 | 91 | 2962 | Unknown | -4.14382683354 |
8743.50622222,5807.84483542 |
0 |
| 583 | novel splice | W.DNLDS:IATNGVVHVIDR.V | DIRRGLESNVNVELLNALHSHMINKRMLTKDLKNGMIIPSMYNNLGLFINHYPNGVVTVNCARIIHGNQ | SI | 148 | 6 | 1 | POSTN | Q15063 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Gamma-carboxyglutamic-acid;Glycoprotein;-Golgi-apparatus;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 38160984-38161023;38164508-38164526 | 2 | 4 | 15 | 1 | 3 | 0 | -3 | 11325 | 290 | -11035 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 1 | 0 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0 |
| 583 | novel splice | W.DNLDS:IATNGVVHVIDR.V | DIRRGLESNVNVELLNALHSHMINKRMLTKDLKNGMIIPSMYNNLGLFINHYPNGVVTVNCARIIHGNQ | SI | 148 | 6 | 1 | POSTN | B1ALD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B1ALD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr13 | 38160984-38161023;38164508-38164526 | 2 | 4 | 15 | 1 | 3 | 0 | -3 | 11325 | 290 | -11035 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 1 | 0 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0 |
| 587 | novel splice | R.GDEGPIGHQGPIGQE:GRPGS.P | AP | EGR | 1469 | 17 | 1 | COL4A2 | P08572 | 3D-structure;-Angiogenesis;-Basement-membrane;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;-Hydroxylation;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 111156562-111156611;111158770-111158787 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 260 | 490 | 230 | -4.500000 | Hydrophilic;3.000000 | - | 12 | 1 | 0 | Unknown | 2.17034141057 |
3278.81108965,5807.84483542 |
0 |
| 589 | novel splice | K.L:VIHDNFGIVEGLM:TTVHAITATQK.T | KV | L | 163 | 1 | 1 | GAPDH | P04406 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Apoptosis;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Glycolysis;-Membrane;-Methylation;-NAD;Nucleus;-Oxidation;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-S-nitrosylation;-Transferase;Translation-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr12 | 6645915-6645921;6646517-6646556;6646749-6646785 | 1 | 32 | 2 | 1 | 1 | 0 | -1 | 355 | 170 | -185 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0.000000 |
| 589 | novel splice | K.L:VIHDNFGIVEGLM:TTVHAITATQK.T | KV | L | 88 | 1 | 1 | GAPDH | E7EUT5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EUT5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 6645915-6645921;6646517-6646556;6646749-6646785 | 1 | 32 | 2 | 1 | 1 | 0 | -1 | 355 | 170 | -185 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 8.5655461906 |
323.824979587,5807.84483542 |
0.000000 |
| 596 | novel splice | Y.WSQQ:MEQLNGILLHLESELAQTR.A | IEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYAL | QQM | 275 | 5 | 1 | KRT18 | F8VZY9 | Coiled-coil-{ECO:0000256|SAAS:SAAS00432071,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|RuleBase:RU000685,Proteomics-identification-{ECO:0000213|EPD:F8VZY9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53345414-53345429;53345956-53346016 | 2 | 10 | 3 | 1 | -5 | 0 | 5 | 9490 | 545 | -8945 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 1 | 0 | Unknown | 6.84442102148 |
532.727168159,5807.84483542 |
0.000000 |
| 596 | novel splice | Y.WSQQ:MEQLNGILLHLESELAQTR.A | IEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYAL | QQM | 275 | 5 | 1 | KRT18 | P05783 | Acetylation;-Cell-cycle;-Coiled-coil;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;Host-virus-interaction;-Intermediate-filament;-Isopeptide-bond;Keratin;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr12 | 53345414-53345429;53345956-53346016 | 2 | 10 | 3 | 1 | -5 | 0 | 5 | 9490 | 545 | -8945 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 1 | 0 | Unknown | 6.84442102148 |
532.727168159,5807.84483542 |
0.000000 |
| 597 | novel splice | G.SNFG:GRSSGPYGGGGQYFAK.P | GGSYNDFGNYNNQSSNFGPMKGG | SNFGGR | 309 | 6 | 1 | HNRNPA1 | P09651 | 3D-structure;-Acetylation;-Alternative-splicing;Amyotrophic-lateral-sclerosis;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Host-virus-interaction;Isopeptide-bond;-Methylation;-mRNA-processing;-mRNA-splicing;mRNA-transport;-Neurodegeneration;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ribonucleoprotein;RNA-binding;-Spliceosome;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr12 | 54677594-54677610;54677691-54677741 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 3335 | 860 | -2475 | -4.500000 | Hydrophilic;3.000000 | D->N(inALS20;dbSNP:rs397518453). D->V(inIBMPFD3;reducesbindingto N->S(inALS20;dbSNP:rs397518454). |
1 | 1 | 0 | Unknown | 6.42769284671 |
573.544434258,5807.84483542 |
0 |
| 597 | novel splice | G.SNFG:GRSSGPYGGGGQYFAK.P | GGSYNDFGNYNNQSSNFGPMKGG | SNFGGR | 244 | 6 | 1 | HNRNPA1 | F8W6I7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W6I7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 54677594-54677610;54677691-54677741 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 3335 | 860 | -2475 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.42769284671 |
573.544434258,5807.84483542 |
0 |
| 597 | novel splice | G.SNFG:GRSSGPYGGGGQYFAK.P | GGSYNDFGNYNNQSSNFGPMKGG | SNFGGR | 128 | 6 | 1 | HNRNPA1 | H0YH80 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YH80,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 54677594-54677610;54677691-54677741 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 3335 | 860 | -2475 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.42769284671 |
573.544434258,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 67 | 2 | 1 | MYL6 | J3KND3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KND3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 111 | 2 | 1 | MYL6 | F8W180 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W180,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 159 | 2 | 1 | MYL6 | B7Z6Z4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7Z6Z4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 18 | 2 | 1 | MYL6 | F8VZU9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VZU9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 54 | 2 | 1 | MYL6 | F8VPF3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VPF3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 67 | 2 | 1 | MYL6 | G8JLA2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G8JLA2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 66 | 2 | 1 | MYL6 | G3V1V0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1V0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 66 | 2 | 1 | MYL6 | P60660 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Motor-protein;-Muscle-protein;-Myosin;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 30 | 2 | 1 | MYL6 | G3V1Y7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1Y7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 598 | novel splice | V.LK:DQGTYEDYVEGLR.V | DFEHFLPMLQTVAKN | LK | 66 | 2 | 1 | MYL6 | F8W1R7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W1R7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56553480-56553489;56553826-56553868 | 1 | 8 | 10 | 1 | -1 | 1 | 2 | 2575 | 370 | -2205 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 6.28525750495 |
585.832676791,5807.84483542 |
0 |
| 599 | novel splice | S.W:PFQVAEVFTGHMGK.L | Q | W | 466 | 1 | 1 | ATP5B | P06576 | Acetylation;-ATP-synthesis;-ATP-binding;-CF(1);-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Hydrogen-ion-transport;Hydrolase;-Ion-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr12 | 57032935-57032980;57033054-57033060 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 180 | 255 | 75 | -0.900000 | -3.400000 | - | 1 | 1 | 0 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5GX62 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GX62,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H6R7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H6R7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H7Y6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7Y6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H491 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H491,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | E7ESV4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESV4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H0B7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H0B7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H077 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H077,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H500 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H500,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | P61224 | 3D-structure;-ADP-ribosylation;-Alternative-splicing;-Cell-junction;Cell-membrane;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-GTP-binding;-Lipoprotein;-Membrane;Methylation;-Nucleotide-binding;-Phosphoprotein;-Prenylation; | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5GWU8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GWU8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5H004 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H004,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 601 | novel splice | K.SAL:QVEVDAQQCMLEILDTAGT:EQFTAMR.D | TVQFVQGIFVEKYDPTIEDSYRK | LQ | 20 | 4 | 1 | RAP1B | F5GYB5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GYB5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69042549-69042561;69045774-69045831;69047891-69047915 | 1 | 5 | 1 | 1 | -1 | 0 | 1 | 3975 | 350 | -3625 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 0 | Unknown | 3.81492070722 |
1550.52784227,5807.84483542 |
0 |
| 605 | novel splice | D.N:PDAQPGGELMLGGTDSK.Y | DP | N | 237 | 1 | 2 | CTSD | F8WD96 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00534356};Proteomics-identification-{ECO:0000213|EPD:F8WD96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 1776200-1776254;1778606-1778612 | 1 | 3 | 19 | 1 | -1 | 0 | 1 | 295 | 160 | -135 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0.000000 |
| 605 | novel splice | D.N:PDAQPGGELMLGGTDSK.Y | DP | N | 237 | 1 | 2 | CTSD | P07339 | 3D-structure;-Alzheimer-disease;-Aspartyl-protease;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Neurodegeneration;Neuronal-ceroid-lipofuscinosis;-Polymorphism;-Protease;Reference-proteome;-Secreted;-Signal;-Zymogen. | Intracellular | Atlas | chr11 | 1776200-1776254;1778606-1778612 | 1 | 3 | 19 | 1 | -1 | 0 | 1 | 295 | 160 | -135 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0.000000 |
| 605 | novel splice | D.N:PDAQPGGELMLGGTDSK.Y | DP | N | 222 | 1 | 2 | CTSD | C9JH19 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00534356};Proteomics-identification-{ECO:0000213|EPD:C9JH19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1776200-1776254;1778606-1778612 | 1 | 3 | 19 | 1 | -1 | 0 | 1 | 295 | 160 | -135 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0.000000 |
| 606 | novel splice | V.ERQ:ATKQPGITFIAAK.- | VFGE | QA | 178 | 4 | 2 | CTSD | F8WD96 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00534356};Proteomics-identification-{ECO:0000213|EPD:F8WD96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 1778675-1778714;1778726-1778738 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 630 | 295 | -335 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 606 | novel splice | V.ERQ:ATKQPGITFIAAK.- | VFGE | QA | 178 | 4 | 2 | CTSD | P07339 | 3D-structure;-Alzheimer-disease;-Aspartyl-protease;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Neurodegeneration;Neuronal-ceroid-lipofuscinosis;-Polymorphism;-Protease;Reference-proteome;-Secreted;-Signal;-Zymogen. | Intracellular | Atlas | chr11 | 1778675-1778714;1778726-1778738 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 630 | 295 | -335 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 606 | novel splice | V.ERQ:ATKQPGITFIAAK.- | VFGE | QA | 143 | 4 | 2 | CTSD | F8W787 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W787,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1778675-1778714;1778726-1778738 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 630 | 295 | -335 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 606 | novel splice | V.ERQ:ATKQPGITFIAAK.- | VFGE | QA | 163 | 4 | 2 | CTSD | C9JH19 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00534356};Proteomics-identification-{ECO:0000213|EPD:C9JH19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1778675-1778714;1778726-1778738 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 630 | 295 | -335 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 607 | novel splice | R.GECQAEGVLFFQG:ER.C | DREWFWDLATGTMKERSWPAVGNCSSALRWLGRYYCFQGNQFLRFDPVRGEVPPRYPRDVRDYFMPCPGRGHGHRNGTGHGNSTHHGPEYM | E | 165 | 14 | 1 | HPX | P02790 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Glycoprotein;-Heme;-Host-virus-interaction;-Iron;-Metal-binding;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Transport. | Intracellular | Atlas | chr11 | 6458723-6458734;6459585-6459625 | 1 | 5 | 9 | 1 | 3 | -1 | -4 | 15065 | 190 | -14875 | -3.500000 | Hydrophilic;3.000000 | - | 18 | 1 | 0 | Unknown | 5.9957073379 |
630.945060716,5807.84483542 |
0 |
| 609 | novel splice | K.RGPGGAWAAEVI:SDAR.E | T | S | 77 | 13 | 1 | SAA1 | E9PQD6 | Acute-phase-{ECO:0000256|RuleBase:RU000539};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 18290839-18290878;18291261-18291276 | 4 | 4 | 66 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 9 | 64 | 16581 | Unknown | 3.670220349 |
1593.08158224,5807.84483542 |
0 |
| 611 | novel splice | E.VNLNAPDVDVHG:PDWHLK.M | NLKMPKMKMPKFSVSGLKAEGPDVAVDLPKGDINIEGPSMNIEGPDLNVEGPEGGLKGPKFKMPDMNIKAPKISMPDIDLNLKGPKVKGDVDISLPKLEGDLKGPEVDIKGPKVDI | LNAPDVDVHGPDWH | 3471 | 16 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62290476-62290499;62291489-62291526 | 1 | 35 | 21 | 1 | -1 | -3 | -2 | 18065 | 2215 | -15850 | -3.200000 | -0.500000 | - | 42 | 1 | 0 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0 |
| 612 | novel splice | K.GAFNFDQETVINPETGEQ:SWYRSGE.T | I | EQS | 504 | 19 | 1 | DPP3 | G3V1D3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1D3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 66262682-66262739;66262841-66262865 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 175 | 485 | 310 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 1 | 0 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
0 |
| 612 | novel splice | K.GAFNFDQETVINPETGEQ:SWYRSGE.T | I | EQS | 485 | 19 | 1 | DPP3 | Q9NY33 | 3D-structure;-Acetylation;-Alternative-splicing;-Aminopeptidase;Complete-proteome;-Cytoplasm;-Hydrolase;-Metal-binding;Metalloprotease;-Polymorphism;-Protease;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr11 | 66262682-66262739;66262841-66262865 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 175 | 485 | 310 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 1 | 0 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
0 |
| 612 | novel splice | K.GAFNFDQETVINPETGEQ:SWYRSGE.T | I | EQS | 505 | 19 | 1 | DPP3 | G3V180 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V180,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 66262682-66262739;66262841-66262865 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 175 | 485 | 310 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 1 | 0 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
0 |
| 614 | novel splice | -.FPVR:DQGQSWKEEVVTVETWQEGSLK.A | GRCAALRMLLA | RD | 13 | 4 | 1 | GSTP1 | P09211 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Mitochondrion;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr11 | 67351627-67351640;67351967-67352035 | 1 | 15 | 2 | 1 | 2 | 0 | -2 | 1700 | 375 | -1325 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 7.46466686149 |
456.795085832,5807.84483542 |
0 |
| 614 | novel splice | -.FPVR:DQGQSWKEEVVTVETWQEGSLK.A | GRCAALRMLLA | RD | 13 | 4 | 1 | GSTP1 | A8MX94 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8MX94,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 67351627-67351640;67351967-67352035 | 1 | 15 | 2 | 1 | 2 | 0 | -2 | 1700 | 375 | -1325 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 7.46466686149 |
456.795085832,5807.84483542 |
0 |
| 616 | novel splice | K.VETA:GSEPGDTEPLELGGPGAE:PEQK.E | TG | A | 901 | 4 | 1 | HYOU1 | A0A087X054 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X054,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 118916349-118916366;118916492-118916546;118917128-118917141 | 1 | 0 | 11 | 1 | 0 | 0 | 0 | 215 | 115 | -100 | Hydrophobic;1.800000 | -0.500000 | - | 33 | 92 | 9846 | Unknown | 4.46031904787 |
1148.14459118,5807.84483542 |
0.000000 |
| 616 | novel splice | K.VETA:GSEPGDTEPLELGGPGAE:PEQK.E | TG | A | 963 | 4 | 1 | HYOU1 | Q9Y4L1 | Acetylation;-Alternative-splicing;-ATP-binding;-Chaperone;Complete-proteome;-Direct-protein-sequencing;-Endoplasmic-reticulum;Glycoprotein;-Nucleotide-binding;-Phosphoprotein;-Reference-proteome;Signal;-Stress-response. | Intracellular | Atlas | chr11 | 118916349-118916366;118916492-118916546;118917128-118917141 | 1 | 0 | 11 | 1 | 0 | 0 | 0 | 215 | 115 | -100 | Hydrophobic;1.800000 | -0.500000 | - | 33 | 92 | 9846 | Unknown | 4.46031904787 |
1148.14459118,5807.84483542 |
0.000000 |
| 618 | novel splice | N.RTG:LMHTFNAHAATDITGFGILGHAQNLAK.Q | AA | TG | 251 | 3 | 1 | SEPHS1 | P49903 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Kinase;-Membrane;-Nucleotide-binding;Nucleus;-Reference-proteome;-Selenium;-Transferase. | Intracellular | Atlas | chr10 | 13364955-13365041;13370350-13370360 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 230 | 215 | -15 | -0.400000 | 0.000000 | - | 3 | 65 | 918 | Unknown | 3.56140565713 |
1759.82604634,5807.84483542 |
0 |
| 619 | novel splice | F.LKKLHEE:ELQAQIQEQHVQIDVDVSKPDLTAALR.D | IQ | EEL | 242 | 9 | 1 | VIM | P08670 | 3D-structure;-Acetylation;-Cataract;-Coiled-coil;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;Host-virus-interaction;-Intermediate-filament;-Isopeptide-bond;Nitration;-Phosphoprotein;-Reference-proteome;-S-nitrosylation; | Intracellular | Atlas | chr10 | 17275657-17275681;17275777-17275861 | 1 | 10 | 72 | 1 | 0 | -2 | -2 | 355 | 550 | 195 | Hydrophobic;3.800000 | -1.800000 | - | 62 | 1 | 0 | Unknown | 7.52255507137 |
459.50449083,5807.84483542 |
0 |
| 619 | novel splice | F.LKKLHEE:ELQAQIQEQHVQIDVDVSKPDLTAALR.D | IQ | EEL | 242 | 9 | 1 | VIM | B0YJC4 | Coiled-coil-{ECO:0000256|SAAS:SAAS00432071,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|RuleBase:RU000685,Proteomics-identification-{ECO:0000213|EPD:B0YJC4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 17275657-17275681;17275777-17275861 | 1 | 10 | 72 | 1 | 0 | -2 | -2 | 355 | 550 | 195 | Hydrophobic;3.800000 | -1.800000 | - | 62 | 1 | 0 | Unknown | 7.52255507137 |
459.50449083,5807.84483542 |
0 |
| 619 | novel splice | F.LKKLHEE:ELQAQIQEQHVQIDVDVSKPDLTAALR.D | IQ | EEL | 60 | 9 | 1 | VIM | B0YJC5 | Coiled-coil-{ECO:0000256|SAAS:SAAS00432071,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|RuleBase:RU000685,Proteomics-identification-{ECO:0000213|EPD:B0YJC5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 17275657-17275681;17275777-17275861 | 1 | 10 | 72 | 1 | 0 | -2 | -2 | 355 | 550 | 195 | Hydrophobic;3.800000 | -1.800000 | - | 62 | 1 | 0 | Unknown | 7.52255507137 |
459.50449083,5807.84483542 |
0 |
| 619 | novel splice | F.LKKLHEE:ELQAQIQEQHVQIDVDVSKPDLTAALR.D | IQ | EEL | 68 | 9 | 1 | VIM | Q5JVS8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JVS8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 17275657-17275681;17275777-17275861 | 1 | 10 | 72 | 1 | 0 | -2 | -2 | 355 | 550 | 195 | Hydrophobic;3.800000 | -1.800000 | - | 62 | 1 | 0 | Unknown | 7.52255507137 |
459.50449083,5807.84483542 |
0 |
| 620 | novel splice | A.P:AEILELAGNAAR.D | AA | P | 58 | 1 | 1 | H2AFY2 | Q9P0M6 | 3D-structure;-Chromatin-regulator;-Chromosome;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Nucleosome-core;-Nucleus;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 71812749-71812756;71849815-71849853 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 230 | 145 | -85 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 4.45778705293 |
1155.78756298,5807.84483542 |
0.000000 |
| 620 | novel splice | A.P:AEILELAGNAAR.D | AA | P | 58 | 1 | 1 | H2AFY2 | Q5SQT3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Nucleosome-core-{ECO:0000256|RuleBase:RU003767};Proteomics-identification-{ECO:0000213|EPD:Q5SQT3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 71812749-71812756;71849815-71849853 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 230 | 145 | -85 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 4.45778705293 |
1155.78756298,5807.84483542 |
0.000000 |
| 627 | novel splice | R.DNLTLWTSDMQGDE:QNKEA.L | GE | DE | 239 | 14 | 1 | YWHAE | P62258 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Host-virus-interaction;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr17 | 1248767-1248787;1257504-1257547 | 1 | 3 | 6 | 1 | -1 | -2 | -1 | 265 | 340 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 16 | 1 | 0 | Unknown | 6.83613887661 |
538.040893329,5807.84483542 |
0 |
| 627 | novel splice | R.DNLTLWTSDMQGDE:QNKEA.L | D | EQNKEAL | 114 | 14 | 1 | YWHAE | K7EM20 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EM20,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 1248767-1248787;1257504-1257547 | 1 | 3 | 6 | 1 | -1 | -1 | 0 | 150 | 1205 | 1055 | -3.500000 | Hydrophilic;3.000000 | - | 16 | 1 | 0 | Unknown | 6.83613887661 |
538.040893329,5807.84483542 |
0 |
| 628 | novel splice | Q.PAE:DGEFSMDLR.T | VGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQ | ED | 12 | 4 | 1 | PFN1 | K7EJ44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EJ44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4849977-4850007;4850106-4850118 | 1 | 5 | 3 | 1 | 2 | -2 | -4 | 5020 | 340 | -4680 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 1 | 0 | Unknown | 7.55197600978 |
444.772377972,5807.84483542 |
0 |
| 632 | novel splice | E.LT:LEMQIEGLKEELAYLKK.N | ARTD | TLE | 20 | 4 | 1 | KRT19 | K7EMS3 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467002,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00466996};Proteomics-identification-{ECO:0000213|PeptideAtlas:K7EMS3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39681103-39681157;39681172-39681181 | 2 | 2 | 204 | 1 | 0 | -1 | -1 | 630 | 500 | -130 | -3.500000 | Hydrophilic;3.000000 | - | 69 | 1 | 0 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0 |
| 632 | novel splice | E.LT:LEMQIEGLKEELAYLKK.N | ARTD | TLE | 165 | 4 | 1 | KRT19 | C9JM50 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467002,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00466996};Proteomics-identification-{ECO:0000213|EPD:C9JM50,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39681103-39681157;39681172-39681181 | 2 | 2 | 204 | 1 | 0 | -1 | -1 | 630 | 500 | -130 | -3.500000 | Hydrophilic;3.000000 | - | 69 | 1 | 0 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0 |
| 632 | novel splice | E.LT:LEMQIEGLKEELAYLKK.N | ARTD | TLE | 196 | 4 | 1 | KRT19 | P08727 | Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Host-virus-interaction;-Intermediate-filament;-Keratin;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 39681103-39681157;39681172-39681181 | 2 | 2 | 204 | 1 | 0 | -1 | -1 | 630 | 500 | -130 | -3.500000 | Hydrophilic;3.000000 | - | 69 | 1 | 0 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0 |
| 635 | novel splice | R.PGEVGPPGPPGP:PGAPGAPGAPGPVGPAGK.S | AGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPA | PGPP | 931 | 13 | 1 | COL1A1 | P02452 | 3D-structure;-Calcium;-Chromosomal-rearrangement;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dwarfism;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Osteogenesis-imperfecta;-Phosphoprotein;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr17 | 48265908-48265967;48266778-48266815 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 14570 | 510 | -14060 | -1.600000 | 0.000000 | G->C(inOI2). G->D(inOI2). G->V(inOI2). G->C(inOI2). G->S(inOI4). R->C(inCAFFD). G->A(indbSNP:rs1135348). G->S(inOI3;severeform). G->V(inOI2). G->R(inOI2). G->S(inOI2andOI3;moderateto |
1 | 1 | 0 | Unknown | 4.46609643131 |
1131.77703593,5807.84483542 |
0 |
| 636 | novel splice | P.PGPAGAAGPA:GPAGKDGEAGAQGPPGPA:GPAGER.G | NPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAV | AGP | 387 | 12 | 1 | COL1A1 | P02452 | 3D-structure;-Calcium;-Chromosomal-rearrangement;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dwarfism;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Osteogenesis-imperfecta;-Phosphoprotein;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr17 | 48270033-48270054;48270157-48270211;48272927-48272960 | 1 | 0 | 4 | 1 | 5 | 0 | -5 | 28330 | 335 | -27995 | -1.600000 | 0.000000 | G->C(inOI;moderateform). G->R(inOI2). A->T(inOI2;rarevariant;unknown G->A(inOI4). G->D(inOI2). G->C(inOI4). G->C(inOI;moderateform). G->C(inOI2).{ECO:0000269|Ref.47}. G->S(inOI2;lethalform). G->V(inOI2). G->D(inOI2). G->V(inOI2). G->R(inOI2;dbSNP:rs57377812). G->V(inOI2). G->C(inOI4). G->S(inOI2,OI3andOI4;mildto G->D(inOI2). G->A(inOI2). P->R(inOI1). G->C(inOI4). G->R(inOI2). G->S(inOI4). R->H(indbSNP:rs1800211). G->R(inOI2). R->C(foundinapatientwithisolated G->R(inOI2). G->C(inOI3andOI4). G->S(inOI2andOI3;moderateto G->R(inOI2). G->D(inOI2). |
1 | 1 | 0 | Unknown | 4.46609643131 |
1131.77703593,5807.84483542 |
0 |
| 638 | novel splice | K.ADDPSSYMEVVQAANT:RNWEELVK.Y | SG | R | 1147 | 17 | 1 | CLTC | Q00610 | 3D-structure;-Acetylation;-Alternative-splicing;-Coated-pit;Complete-proteome;-Cytoplasmic-vesicle;-Direct-protein-sequencing;Membrane;-Phosphoprotein;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr17 | 57759145-57759197;57759631-57759657 | 1 | 8 | 8 | 1 | 0 | 1 | 1 | 190 | 225 | 35 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 4.94265867748 |
927.942723879,5807.84483542 |
0 |
| 638 | novel splice | K.ADDPSSYMEVVQAANT:RNWEELVK.Y | SG | R | 1151 | 17 | 1 | CLTC | A0A087WVQ6 | Coated-pit-{ECO:0000256|PIRNR:PIRNR002290};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Cytoplasmic-vesicle-{ECO:0000256|PIRNR:PIRNR002290};Proteomics-identification-{ECO:0000213|EPD:A0A087WVQ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 57759145-57759197;57759631-57759657 | 1 | 8 | 8 | 1 | 0 | 1 | 1 | 190 | 225 | 35 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 4.94265867748 |
927.942723879,5807.84483542 |
0 |
| 639 | novel splice | G.RD:LYANTVLSGGTTMYPGIADR.M | TDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFNSIMKCDVDIRK | RDLY | 186 | 4 | 1 | ACTG1 | P63261 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Mental-retardation;-Methylation;Non-syndromic-deafness;-Nucleotide-binding;-Oxidation;-Polymorphism; | Intracellular | Atlas | chr17 | 79477997-79478060;79478463-79478472 | 1 | 0 | 67 | 1 | -6 | 0 | 6 | 17420 | 775 | -16645 | -1.300000 | -2.300000 | T->K(inBRWS2;dbSNP:rs281875327). E->K(inDFNA20;dbSNP:rs267606631). R->W(inBRWS2;dbSNP:rs281875328). R->W(inBRWS2;dbSNP:rs281875329). P->L(inDFNA20;dbSNP:rs104894546). T->I(inDFNA20;dbSNP:rs28999112). |
1 | 1 | 0 | Unknown | - |
- |
0 |
| 640 | novel splice | R.PP:AASSSSLEK.S | RHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMAT | P | 39 | 2 | 1 | ACTG1 | P63261 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Mental-retardation;-Methylation;Non-syndromic-deafness;-Nucleotide-binding;-Oxidation;-Polymorphism; | Intracellular | Atlas | chr17 | 79478298-79478329;79478964-79478972 | 1 | 12 | 2 | 1 | -8 | 0 | 8 | 31465 | 145 | -31320 | -1.600000 | 0.000000 | T->I(inDFNA20;dbSNP:rs28999111). K->M(inDFNA20;dbSNP:rs104894544). K->N(inDFNA20;dbSNP:rs267606630). T->I(inBRWS2;dbSNP:rs281875325). I->V(inDFNA20;dbSNP:rs281875330). A->V(inBRWS2;dbSNP:rs11549190). S->F(inBRWS2;dbSNP:rs281875326). T->I(indbSNP:rs11549206). T->K(inBRWS2;dbSNP:rs281875327). |
1 | 1 | 0 | Unknown | - |
- |
0 |
| 640 | novel splice | R.PP:AASSSSLEK.S | RHQDSYVGDEAQSKRGILTLKYPIEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVLSLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVRDIKEKLCYVALDFEQEMAT | P | 39 | 2 | 1 | ACTG1 | I3L4N8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4N8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79478298-79478329;79478964-79478972 | 1 | 12 | 2 | 1 | -9 | 0 | 9 | 30180 | 145 | -30035 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | J3KT65 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KT65,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | I3L3R2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L3R2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | K7EM38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EM38,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | I3L1U9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L1U9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | P63261 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Mental-retardation;-Methylation;Non-syndromic-deafness;-Nucleotide-binding;-Oxidation;-Polymorphism; | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | GVMVGMGQKDSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | I3L3I0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L3I0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | 0 | 0 | 0 | 4855 | 375 | -4480 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 641 | novel splice | R.PRHQ:HGIVTNWDDMEK.I | DSYVGDEAQSKRGILTLKYPIE | QH | 42 | 5 | 1 | ACTG1 | I3L4N8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4N8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79479036-79479075;79479257-79479272 | 1 | 12 | 54 | 1 | -1 | 0 | 1 | 3570 | 375 | -3195 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 644 | novel splice | L.LVEFS:GREAD:DIPFGITSNSDVFSK.Y | VNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGFFKDVESDSAKQFLQAAEAI | ADDIP | 57 | 13 | 1 | P4HB | I3L312 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L312,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 79813053-79813103;79813447-79813462;79818202-79818218 | 1 | 0 | 14 | 1 | -3 | -2 | 1 | 8295 | 735 | -7560 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0 |
| 644 | novel splice | L.LVEFS:GREAD:DIPFGITSNSDVFSK.Y | YAPWCGHCKALAPEYAKAAGKLKAEGSEIRLAKVDATEESDLAQQYGVRGYPTIKFFRNGDTASPKEYTAGREADDIVNWLKKRTGPAATTLPDGAAAESLVESSEVAVIGFFKDVESDSAKQFLQAAEAI | SGREA | 49 | 5 | 1 | P4HB | P07237 | 3D-structure;-Acetylation;-Cell-membrane;-Chaperone;Complete-proteome;-Craniosynostosis;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Endoplasmic-reticulum;-Isomerase;Membrane;-Osteogenesis-imperfecta;-Phosphoprotein;Redox-active-center;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr17 | 79813053-79813103;79813447-79813462;79818202-79818218 | 1 | 0 | 14 | 1 | -4 | 0 | 4 | 20505 | 720 | -19785 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 0 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0 |
| 646 | novel splice | D.HHIYLEG:TFLSGGQSEEEASINLNAINK.C | LLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGI | GTF | 228 | 9 | 1 | ALDOA | H3BQN4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:H3BQN4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080849-30080875;30081157-30081221 | 1 | 12 | 17 | 1 | 2 | 0 | -2 | 6415 | 425 | -5990 | Hydrophobic;2.800000 | -2.500000 | - | 22 | 1 | 0 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0 |
| 646 | novel splice | D.HHIYLEG:TFLSGGQSEEEASINLNAINK.C | LLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGI | GTF | 228 | 9 | 1 | ALDOA | P04075 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;Glycogen-storage-disease;-Glycolysis;-Hereditary-hemolytic-anemia;Isopeptide-bond;-Lyase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Schiff-base;-Ubl-conjugation. | Intracellular | Atlas | chr16 | 30080849-30080875;30081157-30081221 | 1 | 12 | 17 | 1 | 2 | 0 | -2 | 6415 | 425 | -5990 | Hydrophobic;2.800000 | -2.500000 | - | 22 | 1 | 0 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0 |
| 646 | novel splice | D.HHIYLEG:TFLSGGQSEEEASINLNAINK.C | LLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGI | GTF | 232 | 9 | 1 | ALDOA | J3KPS3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:J3KPS3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080849-30080875;30081157-30081221 | 1 | 12 | 17 | 1 | 2 | 0 | -2 | 6415 | 425 | -5990 | Hydrophobic;2.800000 | -2.500000 | - | 22 | 1 | 0 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0 |
| 653 | novel splice | V.VEVGSKI:GADFLVTEVENGGSLGSK.K | YVDDGLISLQVKQK | IG | 175 | 8 | 1 | PKM | P14618 | 3D-structure;-Acetylation;-Allosteric-enzyme;-Alternative-splicing;ATP-binding;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Glycolysis;-Hydroxylation;-Isopeptide-bond;-Kinase;-Magnesium;Metal-binding;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Potassium;-Pyruvate;-Reference-proteome;-Transferase; | Intracellular | Atlas | chr15 | 72501176-72501234;72502057-72502080 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 2305 | 250 | -2055 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 653 | novel splice | V.VEVGSKI:GADFLVTEVENGGSLGSK.K | YVDDGLISLQVKQK | IG | 175 | 8 | 1 | PKM | H3BQ34 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BQ34,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72501176-72501234;72502057-72502080 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 2305 | 250 | -2055 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 653 | novel splice | V.VEVGSKI:GADFLVTEVENGGSLGSK.K | YVDDGLISLQVKQK | IG | 175 | 8 | 1 | PKM | H3BTN5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BTN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72501176-72501234;72502057-72502080 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 2305 | 250 | -2055 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 653 | novel splice | V.VEVGSKI:GADFLVTEVENGGSLGSK.K | YVDDGLISLQVKQK | IG | 101 | 8 | 1 | PKM | B4DNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Kinase-{ECO:0000256|RuleBase:RU000504,-ECO:0000313|EMBL:BAG60266.1};Proteomics-identification-{ECO:0000213|EPD:B4DNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72501176-72501234;72502057-72502080 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 2305 | 250 | -2055 | -0.400000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 655 | novel splice | R.LEGE:LSLADKDMTAK.D | D | E | 1973 | 4 | 1 | AHNAK2 | Q8IVF2 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr14 | 105408902-105408938;105418343-105418358 | 1 | 12 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 0.113454221949 |
5672.90559359,5807.84483542 |
2.415363 |
| 657 | novel splice | G.R:PIEDVPCGNIVGLVGVDQFLVK.T | YVE | RP | 457 | 2 | 1 | EEF2 | P13639 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Elongation-factor;GTP-binding;-Isopeptide-bond;-Methylation;-Neurodegeneration;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Protein-biosynthesis;Reference-proteome;-Spinocerebellar-ataxia;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 3979964-3980034;3984097-3984102 | 1 | 11 | 2 | 1 | -1 | 1 | 2 | 575 | 370 | -205 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 5.95513962799 |
623.682179643,5807.84483542 |
0 |
| 665 | novel splice | K.SVILDCTPTGTHDHYMLEWFL:GSEL.Q | TDRSGARPRLASAEMQ | LG | 69 | 22 | 1 | BCAM | P50895 | 3D-structure;-Blood-group-antigen;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 45314537-45314603;45315467-45315482 | 1 | 7 | 29 | 1 | 1 | 0 | -1 | 2485 | 245 | -2240 | -0.400000 | 0.000000 | R->H(definestheLu(a)antigen; | 45 | 1 | 0 | Targetable | 4.55094291445 |
1084.97023201,5807.84483542 |
0.000000 |
| 665 | novel splice | K.SVILDCTPTGTHDHYMLEWFL:GSEL.Q | TDRSGARPRLASAEMQ | LG | 69 | 22 | 1 | BCAM | A0A087WXM8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00504776};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00441151};Membrane-{ECO:0000256|SAAS:SAAS00555568,-ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|EPD:A0A087WXM8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00555568, | Membrane-Bound | Atlas | chr19 | 45314537-45314603;45315467-45315482 | 1 | 7 | 29 | 1 | 1 | 0 | -1 | 2485 | 245 | -2240 | -0.400000 | 0.000000 | - | 45 | 1 | 0 | Targetable-Peptide | 4.55094291445 |
1084.97023201,5807.84483542 |
0.000000 |
| 666 | novel splice | R.WVQTLSEQVQEELLSSQVTQEL:SP.S | RALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEELRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERAQAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEKVQAAVGTSAAPV | S | 79 | 23 | 1 | APOE | P02649 | 3D-structure;-Alzheimer-disease;-Amyloidosis;-Cholesterol-metabolism;Chylomicron;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Glycation;-Glycoprotein;-HDL;-Heparin-binding;Hyperlipidemia;-Lipid-metabolism;-Lipid-transport;-Neurodegeneration;Oxidation;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Secreted;-Signal;-Steroid-metabolism;-Sterol-metabolism;-Transport; | Intracellular | Atlas | chr19 | 45411138-45411209;45411737-45411744 | 1 | 2 | 7 | 1 | 3 | 0 | -3 | 38665 | 115 | -38550 | -0.800000 | Hydrophilic;0.300000 | Q->K(informE5Frankfurt). P->R(informE5-type;no A->T(informE3*;dbSNP:rs28931577). A->V(informE3Basel). C->R(inHLPP3;formE3**,formE4, G->D(informE1Weisgraber; G->GEVQAMLG(inHLPP3;formE3Leiden). R->Q(informE2-type;no R->C(inHLPP3;formE2-type; R->S(inHLPP3;formE2Christchurch; R->C(inHLPP3;formE3**; R->C(inHLPP3;formE4Philadelphia R->H(inE3Kochi;dbSNP:rs121918397). R->P(inLPG;formE2Sendai; K->E(inHLPP3;formE1Harrisburg; K->Q(inHLPP3;formE2**; Missing(inSBHDandFH;alsofoundin A->P(informE3*;dbSNP:rs267606662). R->C(inHLPP3;formsE1Weisgraber, R->Q(informE2Fukuoka; R->C(informE2Dunedin; V->E(informE2WG; EE->KK(inHLPP3;formE7Suita). R->G(informE3HBandformE4/3; L->E(informE1HE;requires2 R->H(informE4PD; |
18 | 1 | 0 | Unknown | 4.30500117912 |
1169.46280484,5807.84483542 |
0 |
| 667 | novel splice | K.VSK:EEASGGPTAPK.A | Q | KE | 241 | 4 | 1 | VASP | P50552 | 3D-structure;-Acetylation;-Actin-binding;-Cell-junction;Cell-membrane;-Cell-projection;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SH3-binding; | Intracellular | Atlas | chr19 | 46025827-46025839;46025978-46026014 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 180 | 390 | 210 | -3.500000 | Hydrophilic;3.000000 | - | 46 | 67 | 3504 | Unknown | 3.48990471735 |
1851.66019237,5807.84483542 |
0.000000 |
| 667 | novel splice | K.VSK:EEASGGPTAPK.A | Q | KE | 10 | 4 | 1 | VASP | K7EM16 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EM16,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46025827-46025839;46025978-46026014 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 180 | 390 | 210 | -3.500000 | Hydrophilic;3.000000 | - | 46 | 67 | 3504 | Unknown | 3.48990471735 |
1851.66019237,5807.84483542 |
0.000000 |
| 670 | novel splice | G.KPPQ:LMAFGGSSEPCALCSLHSIGK.I | YIAVHVVPD | PQL | 37 | 5 | 3 | MIF | P14174 | 3D-structure;-Acetylation;-Complete-proteome;-Cytokine;-Cytoplasm;Direct-protein-sequencing;-Immunity;-Inflammatory-response;Innate-immunity;-Isomerase;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr22 | 24236754-24236769;24236988-24237054 | 1 | 8 | 7 | 1 | -1 | 0 | 1 | 1475 | 495 | -980 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 6.07659813334 |
614.08212468,5807.84483542 |
0.000000 |
| 671 | novel splice | K.DFSALESQLQDTQ:ELDDLLVDL.D | LQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ | TQELD | 1317 | 16 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36688085-36688115;36689804-36689846 | 1 | 8 | 219 | 1 | -3 | -2 | 1 | 17705 | 830 | -16875 | -3.500000 | Hydrophilic;3.000000 | R->W(inaEPSpatient;might | 83 | 1 | 0 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0 |
| 672 | novel splice | K.LEE:ELDDLLVDLDHQR.Q | KTKTRLQQ | E | 1413 | 3 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36688073-36688115;36696214-36696226 | 2 | 3 | 38 | 1 | 3 | -1 | -4 | 1435 | 190 | -1245 | -3.500000 | Hydrophilic;3.000000 | - | 40 | 52 | 281 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0 |
| 673 | novel splice | G.S:SIEPGHIPGTVNIPFTDFLSQEGLEK.S | TEPEPRDG | SS | 192 | 1 | 1 | MPST | P25325 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-junction;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disulfide-bond;-Mitochondrion;-Phosphoprotein;-Redox-active-center;Reference-proteome;-Repeat;-Synapse;-Synaptosome;-Transferase. | Intracellular | Atlas | chr22 | 37423087-37423094;37425256-37425336 | 1 | 1 | 2 | 1 | -2 | 0 | 2 | 1260 | 230 | -1030 | -0.800000 | Hydrophilic;0.300000 | - | 7 | 1 | 0 | Unknown | 3.68744298273 |
1692.08354268,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMS | D | 714 | 3 | 1 | GNAS | Q5JWF2 | ADP-ribosylation;-Alternative-splicing;-Cell-membrane;-Coiled-coil;Complete-proteome;-Cushing-syndrome;-Disease-mutation;-GTP-binding;Magnesium;-Membrane;-Metal-binding;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transducer. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | -4 | -1 | 3 | 6330 | 150 | -6180 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMS | D | 12 | 3 | 1 | GNAS | S4R3V9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3V9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | -4 | -1 | 3 | 6330 | 150 | -6180 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMS | D | 71 | 3 | 1 | GNAS | P63092 | ADP-ribosylation;-Alternative-splicing;-Cell-membrane;Complete-proteome;-Cushing-syndrome;-Direct-protein-sequencing;Disease-mutation;-GTP-binding;-Isopeptide-bond;-Lipoprotein;Magnesium;-Membrane;-Metal-binding;-Nucleotide-binding;-Obesity;Palmitate;-Phosphoprotein;-Polymorphism;-Proto-oncogene;Reference-proteome;-Transducer;-Ubl-conjugation. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | -4 | -1 | 3 | 6330 | 150 | -6180 | -3.500000 | Hydrophilic;3.000000 | L->P(inAHO;dbSNP:rs137854531). I->S(inAHO/PHP1A). |
6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMS | D | 12 | 3 | 1 | GNAS | S4R3E3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3E3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | -4 | -1 | 3 | 6330 | 150 | -6180 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EGGEEDPQAARSNSDGSEKATKVQDIKNNLKEAIETIVAAMS | D | 87 | 3 | 1 | GNAS | Q5JWE9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JWE9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | -4 | -1 | 3 | 6445 | 150 | -6295 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 675 | novel splice | -.FNG:DNLVPPVELANPENQFR.V | EKATKVQDIKNNLKEAIETIVAAMS | DN | 102 | 4 | 1 | GNAS | H0Y7F4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7F4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 57470728-57470739;57478746-57478798 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 4065 | 310 | -3755 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 0 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 676 | novel splice | R.LQGSATAAEA:QVGHQTAR.A | VSARLSRGPGWGPQGTDQPSSPPVPTEADPPLLPQ | AQ | 61 | 11 | 1 | LIME1 | A0A087WZP9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WZP9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr20 | 62369222-62369255;62369360-62369387 | 2 | 0 | 9 | 1 | -1 | 0 | 1 | 5130 | 295 | -4835 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 67 | 4395 | Unknown | -0.685710149753 |
6654.01635199,5807.84483542 |
0 |
| 678 | novel splice | L.TDY:VALDFEQEMATAASSSSLEK.S | LMKILTERGYSFTTTAEREIVRDIKEKLC | DYV | 189 | 4 | 1 | ACTB | P60709 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Dystonia;-Isopeptide-bond;-Mental-retardation;-Methylation;Nucleotide-binding;-Oxidation;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr7 | 5567996-5568059;5568149-5568161 | 1 | 10 | 27 | 1 | 1 | -1 | -2 | 5000 | 535 | -4465 | Hydrophobic;4.200000 | -1.500000 | R->C(inBRWS1;dbSNP:rs281875333). R->H(inBRWS1;dbSNP:rs281875334). |
42 | 1 | 0 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0 |
| 683 | novel splice | P.V:GDPGKNGDKGHAGLAGAR:.G | T | V | 501 | 1 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94041427-94041433;94042394-94042448;94043001-94043004 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 140 | 155 | 15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 683 | novel splice | P.V:GDPGKNGDKGHAGLAGAR:.G | T | V | 499 | 1 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94041427-94041433;94042394-94042448;94043001-94043004 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 140 | 155 | 15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 684 | novel splice | P.T:GLPGPS:GESGAAGPTGPIGSR.G | GERGLHGEFGLPGPAGPRGERGPP | TGLPGPS | 571 | 1 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94041988-94041994;94043533-94043552;94045735-94045782 | 1 | 2 | 114 | 1 | 0 | 0 | 0 | 3430 | 865 | -2565 | -0.700000 | -0.400000 | G->R(inOI2). G->S(inOI2). |
86 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 684 | novel splice | P.T:GLPGPS:GESGAAGPTGPIGSR.G | GERGLHGEFGLPGPAGPRGERGPP | TGLPGPS | 569 | 1 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94041988-94041994;94043533-94043552;94045735-94045782 | 1 | 2 | 114 | 1 | 0 | 0 | 0 | 3430 | 865 | -2565 | -0.700000 | -0.400000 | - | 86 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 685 | novel splice | K.GEQGPP:GESGAAGPTGPIGSR.G | PPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGER | QGPPGE | 551 | 8 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94043220-94043242;94045735-94045782 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 5720 | 810 | -4910 | -3.500000 | Hydrophilic;3.000000 | G->C(inOI2). G->V(inOI2). A->T(indbSNP:rs41317153). G->R(inOI2). |
6 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 685 | novel splice | K.GEQGPP:GESGAAGPTGPIGSR.G | PPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGER | QGPPGE | 549 | 8 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94043220-94043242;94045735-94045782 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 5720 | 810 | -4910 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 686 | novel splice | G.PPGAVGS:PGPHGPVGPAGK.H | VNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGA | SPGP | 917 | 10 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94054473-94054498;94055113-94055151 | 1 | 1 | 13 | 1 | -1 | 0 | 1 | 6150 | 480 | -5670 | -1.600000 | 0.000000 | G->S(inOI3;moderate). G->D(inOI2). G->S(inOI2). |
33 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 686 | novel splice | G.PPGAVGS:PGPHGPVGPAGK.H | VNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGA | SPGP | 915 | 10 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94054473-94054498;94055113-94055151 | 1 | 1 | 13 | 1 | -1 | 0 | 1 | 6150 | 480 | -5670 | -1.600000 | 0.000000 | - | 33 | 1 | 0 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0 |
| 689 | novel splice | R.SHMMDVQ:QGSTQDSAIKDFVLK.Y | VQG | 378 | 8 | 1 | PDIA4 | P13667 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Isomerase;-Polymorphism;-Redox-active-center;-Reference-proteome; | Intracellular | Atlas | chr7 | 148703100-148703148;148705250-148705274 | 2 | 10 | 18 | 1 | 0 | 0 | 0 | 410 | 360 | -50 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 1 | 0 | Unknown | 5.8405637292 |
649.103366857,5807.84483542 |
0.000000 | |
| 692 | novel splice | F.T:VLEYLTAEILELAGNAAR.D | PVGRVHRLLRKGNYSERVGAGAPVYLAA | T | 27 | 1 | 2 | HIST1H2AD | P20671 | Acetylation;-Chromosome;-Citrullination;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 26199252-26199311;26199520-26199524 | 1 | 0 | 7 | 1 | 4 | 0 | -4 | 4400 | 140 | -4260 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 693 | novel splice | K.:FWEVISDEHGIDPTGTYHGDSDLQ:LTTP.T | DRISVYYNEATGGKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLK | QLT | 45 | 26 | 1 | TUBB | P07437 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-GTP-binding;Isopeptide-bond;-Methylation;-Microtubule;-Nucleotide-binding;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 30688337-30688340;30690313-30690385;30691487-30691502 | 2 | 15 | 184 | 2 | -10 | 0 | 10 | 27125 | 490 | -26635 | -0.700000 | -0.400000 | - | 116 | 92 | 3677 | Unknown | 7.3956680041 |
464.696517092,5807.84483542 |
0.000000 |
| 696 | novel splice | I.KNSNPALNDK:EVDETSAEDEGVSQR.K | NLEKGLLKALKVLDNYLTSPLPE | K | 128 | 10 | 1 | CLIC1 | O00299 | 3D-structure;-Acetylation;-Cell-membrane;-Chloride;-Chloride-channel;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disulfide-bond;-Glutathionylation;-Ion-channel;-Ion-transport;Membrane;-Nucleus;-Phosphoprotein;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport;-Voltage-gated-channel. | Membrane-Bound | Atlas | chr6 | 31700059-31700109;31701342-31701373 | 1 | 2 | 15 | 1 | 0 | 1 | 1 | 3760 | 200 | -3560 | -3.900000 | Hydrophilic;3.000000 | - | 18 | 1 | 0 | Targetable-Peptide | 5.88166730596 |
653.604613267,5807.84483542 |
0 |
| 697 | novel splice | E.N:LEIEVVLFHPNYNINGK.K | KRD | N | 86 | 1 | 2 | CFB | H7C5H1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00524913};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 31917300-31917306;31918412-31918466 | 1 | 17 | 3 | 1 | 1 | 0 | -1 | 575 | 160 | -415 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0 |
| 697 | novel splice | E.N:LEIEVVLFHPNYNINGK.K | KRD | N | 545 | 1 | 2 | CFB | A0A0G2JH38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31917300-31917306;31918412-31918466 | 1 | 17 | 3 | 1 | 1 | 0 | -1 | 575 | 160 | -415 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0 |
| 697 | novel splice | E.N:LEIEVVLFHPNYNINGK.K | KRD | N | 545 | 1 | 2 | CFB | P00751 | 3D-structure;-Alternative-splicing;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycation;-Glycoprotein;-Hemolytic-uremic-syndrome;Hydrolase;-Immunity;-Innate-immunity;-Polymorphism;-Protease;Reference-proteome;-Repeat;-Secreted;-Serine-protease;-Signal;-Sushi; | Intracellular | Atlas | chr6 | 31917300-31917306;31918412-31918466 | 1 | 17 | 3 | 1 | 1 | 0 | -1 | 575 | 160 | -415 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0 |
| 698 | novel splice | K.VSV:EAGIPEFYDYDVALIK.L | GGEKRDLEIEVVLFHPNYNINGKK | VE | 542 | 4 | 2 | CFB | A0A0G2JH38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31918167-31918180;31918467-31918517 | 1 | 16 | 1 | 1 | 0 | -1 | -1 | 4030 | 345 | -3685 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 698 | novel splice | K.VSV:EAGIPEFYDYDVALIK.L | GGEKRDLEIEVVLFHPNYNINGKK | VE | 542 | 4 | 2 | CFB | P00751 | 3D-structure;-Alternative-splicing;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycation;-Glycoprotein;-Hemolytic-uremic-syndrome;Hydrolase;-Immunity;-Innate-immunity;-Polymorphism;-Protease;Reference-proteome;-Repeat;-Secreted;-Serine-protease;-Signal;-Sushi; | Intracellular | Atlas | chr6 | 31918167-31918180;31918467-31918517 | 1 | 16 | 1 | 1 | 0 | -1 | -1 | 4030 | 345 | -3685 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs4151659). | 3 | 1 | 0 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 702 | novel splice | K.SGDAAIVDMVPGKPMCVESFSDYPPLD:V.I | GRFAVRDMRQTVAVG | D | 401 | 27 | 2 | EEF1A1 | A0A087WVQ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVQ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 74202519-74202527;74227752-74227834 | 2 | 10 | 44 | 1 | 2 | -1 | -3 | 2385 | 150 | -2235 | -3.500000 | Hydrophilic;3.000000 | - | 52 | 1 | 0 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 702 | novel splice | K.SGDAAIVDMVPGKPMCVESFSDYPPLD:V.I | G | DVI | 420 | 27 | 2 | EEF1A1 | A0A087WV01 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Elongation-factor-{ECO:0000256|RuleBase:RU000325};Protein-biosynthesis-{ECO:0000256|RuleBase:RU000325};Proteomics-identification-{ECO:0000213|EPD:A0A087WV01,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 74202519-74202527;74227752-74227834 | 2 | 10 | 44 | 1 | 0 | -1 | -1 | 75 | 480 | 405 | -3.500000 | Hydrophilic;3.000000 | - | 52 | 1 | 0 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 702 | novel splice | K.SGDAAIVDMVPGKPMCVESFSDYPPLD:V.I | GRFAVRDMRQTVAVG | D | 422 | 27 | 2 | EEF1A1 | P68104 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Elongation-factor;-GTP-binding;Methylation;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Protein-biosynthesis;-Reference-proteome;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 74202519-74202527;74227752-74227834 | 2 | 10 | 44 | 1 | 2 | -1 | -3 | 2385 | 150 | -2235 | -3.500000 | Hydrophilic;3.000000 | - | 52 | 1 | 0 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 704 | novel splice | V.AGDSKNDPPME:VIILNHPGQISAGYAPVLDCHTAHIACK.F | AAGFTAQ | EV | 316 | 12 | 1 | EEF1A1 | A0A087WVQ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVQ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 74227900-74227987;74228097-74228133 | 1 | 24 | 1 | 1 | 0 | -1 | -1 | 950 | 345 | -605 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 25 | 37 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 704 | novel splice | V.AGDSKNDPPME:VIILNHPGQISAGYAPVLDCHTAHIACK.F | AAGFTAQ | EV | 335 | 12 | 1 | EEF1A1 | A0A087WV01 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Elongation-factor-{ECO:0000256|RuleBase:RU000325};Protein-biosynthesis-{ECO:0000256|RuleBase:RU000325};Proteomics-identification-{ECO:0000213|EPD:A0A087WV01,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 74227900-74227987;74228097-74228133 | 1 | 24 | 1 | 1 | 0 | -1 | -1 | 950 | 345 | -605 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 25 | 37 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 704 | novel splice | V.AGDSKNDPPME:VIILNHPGQISAGYAPVLDCHTAHIACK.F | AAGFTAQ | EV | 337 | 12 | 1 | EEF1A1 | P68104 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Elongation-factor;-GTP-binding;Methylation;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Protein-biosynthesis;-Reference-proteome;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 74227900-74227987;74228097-74228133 | 1 | 24 | 1 | 1 | 0 | -1 | -1 | 950 | 345 | -605 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 25 | 37 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0 |
| 705 | novel splice | K.YEVSVIPEYFSGPGTPLTGNAATEEE:GI.Q | VRGNPRDLRVSDPTTSTMKLSWSGAPGKVKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGTTLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHTMIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAPGKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGSGTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDNTVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADIVLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKKSLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPSKKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVKGPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTVLKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGATGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVREVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTSLKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGASDVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGSERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTTIGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTLNVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEGDGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESIVVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNSLSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYEDGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPMEAFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTFCVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLEGPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFNKVVKFIFNTVGGFDEISPA | E | 813 | 26 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75885011-75885022;75887378-75887457 | 1 | 5 | 21 | 1 | -30 | -1 | 29 | 245940 | 190 | -245750 | -3.500000 | Hydrophilic;3.000000 | - | 54 | 1 | 0 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 705 | novel splice | K.YEVSVIPEYFSGPGTPLTGNAATEEE:GI.Q | VRGNPRDLRVSDPTTSTMKLSWSGAPGKVKQYLVTYTPVAGGETQEVTVRGDTTNTVLQGLKEGTQYALSVTALYASGAGDALFGEGTTLEERGSPQDLVTKDITDTSIGAYWTSAPGMVRGYRVSWKSLYDDVDTGEKNLPEDAIHTMIENLQPETKYRISVFATYSSGEGEPLTGDATTELSQDSKTLKVDEETENTMRVTWKPAPGKVVNYRVVYRPHGRGKQMVAKVPPTVTSTVLKRLQPQTTYDITVLPIYKMGEGKLRQGSGTTASRFKSPRNLKTSDPTMSSFRVTWEPAPGEVKGYKVTFHPTGDDRRLGELVVGPYDNTVVLEELRAGTTYKVNVFGMFDGGESSPLVGQEMTTLSDTTVMPILSSGMECLTRAEADIVLLVDGSWSIGRANFRTVRSFISRIVEVFDIGPKRVQIALAQYSGDPRTEWQLNAHRDKKSLLQAVANLPYKGGNTLTGMALNFIRQQNFRTQAGMRPRARKIGVLITDGKSQDDVEAPSKKLKDEGVELFAIGIKNADEVELKMIATDPDDTHAYNVADFESLSRIVDDLTINLCNSVKGPGDLEAPSNLVISERTHRSFRVSWTPPSDSVDRYKVEYYPVSGGKRQEFYVSRMETSTVLKDLKPETEYVVNVYSVVEDEYSEPLKGTEKTLPVPVVSLNIYDVGPTTMHVQWQPVGGATGYILSYKPVKDTEPTRPKEVRLGPTVNDMQLTDLVPNTEYAVTVQAVLHDLTSEPVTVREVTLPLPRPQDLKLRDVTHSTMNVFWEPVPGKVRKYIVRYKTPEEDVKEVEVDRSETSTSLKDLFSQTLYTVSVSAVHDEGESPPVTAQETTRPVPAPTNLKITEVTSEGFRGTWDHGASDVSLYRITWAPFGSSDKMETILNGDENTLVFENLNPNTIYEVSITAIYPDESESDDLIGSERTLPILTTQAPKSGPRNLQVYNATSNSLTVKWDPASGRVQKYRITYQPSTGEGNEQTTTIGGRQNSVVLQKLKPDTPYTITVSSLYPDGEGGRMTGRGKTKPLNTVRNLRVYDPSTSTLNVRWDHAEGNPRQYKLFYAPAAGGPEELVPIPGNTNYAILRNLQPDTSYTVTVVPVYTEGDGGRTSDTGRTLMRGLARNVQVYNPTPNSLDVRWDPAPGPVLQYRVVYSPVDGTRPSESIVVPGNTRMVHLERLIPDTLYSVNLVALYSDGEGNPSPAQGRTLPRSGPRNLRVFGETTNSLSVAWDHADGPVQQYRIIYSPTVGDPIDEYTTVPGRRNNVILQPLQPDTPYKITVIAVYEDGDGGHLTGNGRTVGLLPPQNIHISDEWYTRFRVSWDPSPSPVLGYKIVYKPVGSNEPMEAFVGEMTSYTLHNLNPSTTYDVNVYAQYDSGLSVPLTDQGTTLYLNVTDLKTYQIGWDTFCVKWSPHRAATSYRLKLSPADGTRGQEITVRGSETSHCFTGLSPDTDYGVTVFVQTPNLEGPGVSVKEHTTVKPTEAPTEPPTPPPPPTIPPARDVCKGAKADIVFLTDASWSIGDDNFNKVVKFIFNTVGGFDEISPA | E | 813 | 26 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75885011-75885022;75887378-75887457 | 1 | 5 | 21 | 1 | -30 | -1 | 29 | 245940 | 190 | -245750 | -3.500000 | Hydrophilic;3.000000 | I->T(indbSNP:rs240736). R->C(inBTHLM2;dbSNP:rs200487396). R->Q(indbSNP:rs34438461). E->V(indbSNP:rs35523808). I->T(inBTHLM2;dbSNP:rs796052093). |
54 | 1 | 0 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 713 | novel splice | A.LPMGALPQG:PTDAPPKE:SLELEDPSSGLGVTK.Q | MQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPAVHPGSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCS | TDAPPK | 128 | 11 | 1 | CD74 | P04233 | 3D-structure;-Adaptive-immunity;-Alternative-splicing;-Cell-membrane;Chaperone;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Endoplasmic-reticulum;-Endosome;-Glycoprotein;Golgi-apparatus;-Immunity;-Lysosome;-Membrane;-Phosphoprotein;Proteoglycan;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr5 | 149782138-149782188;149784242-149784264;149786443-149786473 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 24070 | 895 | -23175 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Targetable | 3.97334887685 |
1446.09181602,5807.84483542 |
0 |
| 713 | novel splice | A.LPMGALPQG:PTDAPPKE:SLELEDPSSGLGVTK.Q | MQNATKYGNMTEDHVMHLLQNADPLKVYPPLKGSFPENLRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPKVLTKCQEEVSHIPAVHPGSFRPKCDENGNYLPLQCYGSIGYCWCVFPNGTEVPNTRSRGHHNCS | TDAPPK | 123 | 11 | 1 | CD74 | H0YBZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|PIRSR:PIRSR001992-1,ECO:0000256|SAAS:SAAS00485231};-Membrane-{ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|MaxQB:H0YBZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 149782138-149782188;149784242-149784264;149786443-149786473 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 24070 | 895 | -23175 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Intra-Cellular-Peptide | 3.97334887685 |
1446.09181602,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 393 | 1 | 1 | ALB | P02768 | 3D-structure;-Alternative-splicing;Cleavage-on-pair-of-basic-residues;-Complete-proteome;-Copper;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycation;-Glycoprotein;-Lipid-binding;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Zinc. | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | K->E(inNaskapi/Mersin/Komagome-1). | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 243 | 1 | 1 | ALB | D6RHD5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHD5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 238 | 1 | 1 | ALB | H0YA55 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YA55,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 180 | 1 | 1 | ALB | A0A087WWT3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWT3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 201 | 1 | 1 | ALB | C9JKR2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JKR2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 393 | 1 | 1 | ALB | A0A0C4DGB6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGB6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 715 | novel splice | E.M:FDEFKPLVEEPQNLIK.Q | CYAKV | M | 278 | 1 | 1 | ALB | B7WNR0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7WNR0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 74281690-74281696;74281972-74282023 | 1 | 9 | 8 | 1 | 1 | 0 | -1 | 835 | 185 | -650 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 9.73655680964 |
212.141920066,5807.84483542 |
0 |
| 717 | novel splice | K.GLD:EESILTLLTSR.S | GT | LD | 32 | 3 | 1 | ANXA5 | E9PHT9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PHT9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00429366}. | Intracellular | Atlas | chr4 | 122605882-122605920;122607442-122607452 | 1 | 3 | 2 | 1 | 0 | -1 | -1 | 215 | 320 | 105 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 6.41593016089 |
574.577774449,5807.84483542 |
0 |
| 717 | novel splice | K.GLD:EESILTLLTSR.S | GT | LD | 32 | 3 | 1 | ANXA5 | P08758 | 3D-structure;-Acetylation;-Annexin;-Blood-coagulation;-Calcium;Calcium/phospholipid-binding;-Complete-proteome;Direct-protein-sequencing;-Hemostasis;-Isopeptide-bond;Phosphoprotein;-Reference-proteome;-Repeat;-S-nitrosylation; | Intracellular | Atlas | chr4 | 122605882-122605920;122607442-122607452 | 1 | 3 | 2 | 1 | 0 | -1 | -1 | 215 | 320 | 105 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 6.41593016089 |
574.577774449,5807.84483542 |
0 |
| 720 | novel splice | K.TK:PAPTTIGGLNK.K | QPTSLPKQ | K | 720 | 2 | 1 | MAP4 | P27816 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Isopeptide-bond;-Microtubule;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr3 | 47917279-47917315;47918906-47918915 | 1 | 3 | 1 | 1 | 1 | 1 | 0 | 1275 | 200 | -1075 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0 |
| 720 | novel splice | K.TK:PAPTTIGGLNK.K | QPTSLPKQ | K | 1865 | 2 | 1 | MAP4 | E7EVA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVA0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 47917279-47917315;47918906-47918915 | 1 | 3 | 1 | 1 | 1 | 1 | 0 | 1275 | 200 | -1075 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0 |
| 720 | novel splice | K.TK:PAPTTIGGLNK.K | QPTSLPKQ | K | 131 | 2 | 1 | MAP4 | H7C4C5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4C5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 47917279-47917315;47918906-47918915 | 1 | 3 | 1 | 1 | 1 | 1 | 0 | 1275 | 200 | -1075 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0 |
| 720 | novel splice | K.TK:PAPTTIGGLNK.K | QPTSLPKQ | K | 504 | 2 | 1 | MAP4 | B5MEG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B5MEG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 47917279-47917315;47918906-47918915 | 1 | 3 | 1 | 1 | 1 | 1 | 0 | 1275 | 200 | -1075 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 0 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0 |
| 721 | novel splice | T.M:VELALWDTAGQEDYDR.L | VFENYVADIEVDGKQ | M | 38 | 1 | 1 | RHOA | C9JNR4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JNR4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 49405930-49405981;49406054-49406060 | 1 | 1 | 3 | 1 | -3 | 0 | 3 | 2490 | 185 | -2305 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 3.69436973214 |
1681.29801427,5807.84483542 |
0 |
| 721 | novel splice | T.M:VELALWDTAGQEDYDR.L | VFENYVADIEVDGKQ | M | 38 | 1 | 1 | RHOA | C9JX21 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JX21,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 49405930-49405981;49406054-49406060 | 1 | 1 | 3 | 1 | -3 | 0 | 3 | 2490 | 185 | -2305 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 3.69436973214 |
1681.29801427,5807.84483542 |
0 |
| 721 | novel splice | T.M:VELALWDTAGQEDYDR.L | VFENYVADIEVDGKQ | M | 38 | 1 | 1 | RHOA | P61586 | 3D-structure;-ADP-ribosylation;-Cell-cycle;-Cell-division;Cell-membrane;-Cell-projection;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Glycoprotein;-GTP-binding;Host-virus-interaction;-Lipoprotein;-Magnesium;-Membrane;-Methylation;Nucleotide-binding;-Phosphoprotein;-Prenylation;-Proto-oncogene;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr3 | 49405930-49405981;49406054-49406060 | 1 | 1 | 3 | 1 | -3 | 0 | 3 | 2490 | 185 | -2305 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 0 | Unknown | 3.69436973214 |
1681.29801427,5807.84483542 |
0 |
| 723 | novel splice | V.KVWPQ:PSGELFEIEIDTLETTCHVLDPTPVAR.C | PQP | 72 | 6 | 1 | AHSG | C9JV77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JV77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 186331125-186331143;186333476-186333560 | 2 | 7 | 9 | 1 | 0 | 0 | 0 | 360 | 470 | 110 | -1.600000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 4.52389904774 |
1070.94961723,5807.84483542 |
0 | |
| 723 | novel splice | V.KVWPQ:PSGELFEIEIDTLETTCHVLDPTPVAR.C | PQP | 72 | 6 | 1 | AHSG | P02765 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Glycoprotein;-Mineral-balance;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr3 | 186331125-186331143;186333476-186333560 | 2 | 7 | 9 | 1 | 0 | 0 | 0 | 360 | 470 | 110 | -1.600000 | 0.000000 | - | 3 | 1 | 0 | Unknown | 4.52389904774 |
1070.94961723,5807.84483542 |
0 | |
| 725 | novel splice | R.FLT:GNQWSFINNNLHTQSLNR.S | ALCISNGKCDPCQPAFGPVLLKALLDNMSFLPAATTGGSVYWYFVLLNYVKDEDLAGCSTACASLLTAVSRQLQDRLTPMEALLQTRYGLYSSPFDPVLFDLEMSGSSCKNVYNSSIGVQSDEIDLSDVLSGNGKVSSCTAAEGSFTSLTGLLEVEPLHFTCVSTSDGTRIERDDAMSSFGVTPAVGGLSSGTVGEASTALSSAAQVALQSLSHAMASAEQQLQVLQEKQQQLLKLQQQKAKLEAKLHQTTAAAAAAASAVGPVHNSVPSNPVAAPGFFIHPSDVIPPTPKTTPLFMTPPLTPPNEAVSVVINAELAQLFPGSVIDPPAVNLAAHNKNSNKSRMNPLGSGLALAISHASHFLQPPPHQSIIIERMHSGARRFVTLDFGRPILLTDVLIPTCGDLASLSIDIWTLGEEVDGRRLVVATDISTHSLILHDLIPPPVCRFMKITVIGRYGSTNARAKIPLGFYYGHTYILPWESELKLMHDPLKGEGESANQPEIDQHLAMMVALQEDIQCRYNLACHRLETLLQSIDLPPLNSANNAQYFLRKPDKAVEEDSRVFSAYQDCIQLQLQLNLAHNAVQRLKVALGASRKMLSETSNPEDLIQTSSTEQLRTIIRYLLDTLLSLLHASNGHSVPAVLQSTFHAQACEELFKHLCISGTPKIRLHTGLLLVQLCGGERWWGQFLSNVLQELYNSEQLLIFPQDRVFMLLSCIGQRSLSNSGVLESLLNLLDNLLSPLQPQLPMHRRTEGVLDIPMISWVVMLVSRLLDYVATVEDEAAAAKKPLN | T | 1409 | 3 | 1 | BIRC6 | Q9NR09 | 3D-structure;-Apoptosis;-Cell-cycle;-Cell-division;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Endosome;-Golgi-apparatus;-Ligase;-Membrane;Mitosis;-Phosphoprotein;-Protease-inhibitor;-Reference-proteome;Thiol-protease-inhibitor;-Ubl-conjugation;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr2 | 32696206-32696219;32698179-32698235 | 1 | 2 | 13 | 1 | -19 | 0 | 19 | 124115 | 140 | -123975 | -0.700000 | -0.400000 | - | 36 | 1 | 0 | Unknown | 0.184813673536 |
5794.77988082,5807.84483542 |
0 |
| 726 | novel splice | R.GPTA:VGYFLYNLIDSMSDSEVQAK.E | E | TA | 579 | 4 | 1 | LRPPRC | P42704 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-DNA-binding;-Leigh-syndrome;-Membrane;Mitochondrion;-mRNA-transport;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-Transcription;Transcription-regulation;-Transit-peptide;-Transport. | Intracellular | Atlas | chr2 | 44175589-44175654;44176740-44176753 | 1 | 2 | 4 | 1 | -1 | 0 | 1 | 190 | 255 | 65 | Hydrophobic;1.800000 | -0.500000 | - | 12 | 1 | 0 | Unknown | 4.8468024995 |
959.905713401,5807.84483542 |
0 |
| 729 | novel splice | T.S:DVVEKTAPAVVYIEILD:R.H | RSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIA | S | 89 | 1 | 2 | HTRA2 | A0A0C4DG44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74757032-74757039;74757587-74757639;74757743-74757747 | 1 | 3 | 1 | 1 | 4 | 0 | -4 | 7325 | 115 | -7210 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 216 | Unknown | 1.91076527624 |
3574.32255145,5807.84483542 |
0.000000 |
| 729 | novel splice | T.S:DVVEKTAPAVVYIEILD:R.H | RSRAWLAVALGAGGAVLLLLWGGGRGPPAVLAAVPSPPPASPRSQYNFIA | S | 102 | 1 | 2 | HTRA2 | O43464 | 3D-structure;-Alternative-splicing;-Apoptosis;-Autocatalytic-cleavage;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Hydrolase;-Membrane;-Mitochondrion;-Neurodegeneration;Parkinson-disease;-Parkinsonism;-Polymorphism;-Protease;Reference-proteome;-Serine-protease;-Transit-peptide;-Transmembrane;Transmembrane-helix;-Zymogen. | Membrane-Bound | Atlas | chr2 | 74757032-74757039;74757587-74757639;74757743-74757747 | 1 | 3 | 1 | 1 | 4 | 0 | -4 | 7325 | 115 | -7210 | -0.800000 | Hydrophilic;0.300000 | A->S(polymorphism;associatedwitha | 1 | 53 | 216 | Targetable-Peptide | 1.91076527624 |
3574.32255145,5807.84483542 |
0.000000 |
| 730 | novel splice | K.GDTPASATG:DTLSVPAPAVQPEESLK.T | A | TG | 141 | 9 | 1 | IMMT | A0A087WYS0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:A0A087WYS0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86398376-86398432;86400772-86400800 | 1 | 3 | 18 | 1 | 0 | 0 | 0 | 115 | 215 | 100 | -0.400000 | 0.000000 | - | 51 | 91 | 1389 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 730 | novel splice | K.GDTPASATG:DTLSVPAPAVQPEESLK.T | A | TG | 39 | 9 | 1 | IMMT | H7C463 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:H7C463,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86398376-86398432;86400772-86400800 | 1 | 3 | 18 | 1 | 0 | 0 | 0 | 115 | 215 | 100 | -0.400000 | 0.000000 | - | 51 | 91 | 1389 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 730 | novel splice | K.GDTPASATG:DTLSVPAPAVQPEESLK.T | APTEAAQIISAA | TG | 141 | 9 | 1 | IMMT | Q16891 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide;-Transmembrane; | Membrane-Bound | Atlas | chr2 | 86398376-86398432;86400772-86400800 | 1 | 3 | 18 | 1 | -1 | 0 | 1 | 1695 | 215 | -1480 | -0.400000 | 0.000000 | - | 51 | 91 | 1389 | Mitochondrial intermembrane | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 730 | novel splice | K.GDTPASATG:DTLSVPAPAVQPEESLK.T | A | TG | 54 | 9 | 1 | IMMT | C9J406 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:C9J406,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86398376-86398432;86400772-86400800 | 1 | 3 | 18 | 1 | 0 | 0 | 0 | 115 | 215 | 100 | -0.400000 | 0.000000 | - | 51 | 91 | 1389 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 730 | novel splice | K.GDTPASATG:DTLSVPAPAVQPEESLK.T | E | GDTLSVPAPAVQPEESLKT | 141 | 9 | 1 | IMMT | B9A067 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:B9A067,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86398376-86398432;86400772-86400800 | 1 | 3 | 18 | 1 | -1 | -2 | -1 | 190 | 2810 | 2620 | -0.400000 | 0.000000 | - | 51 | 91 | 1389 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
0 |
| 732 | novel splice | R.FTNMLGQPV:FSLGSTALDLFK.F | G | VFSLGSTALDLFKF | 654 | 9 | 1 | PRPF40A | O75400 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-cycle;Cell-division;-Complete-proteome;-Isopeptide-bond;-mRNA-processing;mRNA-splicing;-Nucleus;-Phosphoprotein;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr2 | 153520452-153520493;153520651-153520679 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 75 | 2205 | 2130 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 67 | 3082 | Unknown | 2.4437591386 |
2972.43800196,5807.84483542 |
0 |
| 735 | novel splice | -.KG:VMLAVDAVIAELK.K | ANPVEIRR | KGV | 135 | 2 | 1 | HSPD1 | P10809 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chaperone;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Hereditary-spastic-paraplegia;Host-virus-interaction;-Leukodystrophy;-Mitochondrion;Neurodegeneration;-Nucleotide-binding;-Phosphoprotein;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr2 | 198360056-198360100;198361890-198361894 | 1 | 6 | 2 | 1 | 1 | 1 | 0 | 1390 | 430 | -960 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 68 | 193 | Unknown | 7.06181932492 |
515.685949794,5807.84483542 |
0 |
| 735 | novel splice | -.KG:VMLAVDAVIAELK.K | ANPVEIRR | KGV | 135 | 2 | 1 | HSPD1 | E7ESH4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESH4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 198360056-198360100;198361890-198361894 | 1 | 6 | 2 | 1 | 1 | 1 | 0 | 1390 | 430 | -960 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 68 | 193 | Unknown | 7.06181932492 |
515.685949794,5807.84483542 |
0 |
| 735 | novel splice | -.KG:VMLAVDAVIAELK.K | ANPVEIRR | KGV | 135 | 2 | 1 | HSPD1 | E7EXB4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EXB4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 198360056-198360100;198361890-198361894 | 1 | 6 | 2 | 1 | 1 | 1 | 0 | 1390 | 430 | -960 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 68 | 193 | Unknown | 7.06181932492 |
515.685949794,5807.84483542 |
0 |
| 736 | novel splice | Q.KVTYLVHNFEG:GGVAMGMYNQDK.S | EE | FEG | 174 | 11 | 1 | IDH1 | O75874 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Glyoxylate-bypass;-Magnesium;-Manganese;Metal-binding;-NADP;-Oxidoreductase;-Peroxisome;-Phosphoprotein;Polymorphism;-Reference-proteome;-Tricarboxylic-acid-cycle. | Intracellular | Atlas | chr2 | 209108284-209108325;209110042-209110076 | 1 | 5 | 26 | 1 | -2 | -1 | 1 | 380 | 475 | 95 | -0.400000 | 0.000000 | - | 45 | 1 | 0 | Unknown | 5.79943323199 |
663.60957058,5807.84483542 |
0 |
| 738 | novel splice | K.AILLE:EENNLIPVDQLGQK.L | LEEN | EEE | 356 | 7 | 1 | USP40 | Q9NVE5 | Alternative-splicing;-Complete-proteome;-Hydrolase;-Polymorphism;Protease;-Reference-proteome;-Thiol-protease;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr2 | 234449370-234449415;234450913-234450931 | 1 | 1 | 18 | 1 | -2 | -3 | -1 | 710 | 570 | -140 | -3.500000 | Hydrophilic;3.000000 | - | 51 | 92 | 2543 | Unknown | -1.22611881595 |
7144.58153218,5807.84483542 |
0 |
| 739 | novel splice | R.YPPPV:ESDAADIVFLIDSSEGVRPDGFAH.I | A | PV | 1429 | 5 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238277740-238277817;238280374-238280390 | 2 | 23 | 5 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 0 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0 |
| 739 | novel splice | R.YPPPV:ESDAADIVFLIDSSEGVRPDGFAH.I | A | PV | 822 | 5 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238277740-238277817;238280374-238280390 | 2 | 23 | 5 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 0 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0 |
| 741 | novel splice | R.AG:GPYDVVVLPGGNLGAQNLSE:SAAVK.E | IKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKE | GG | 31 | 3 | 1 | PARK7 | Q99497 | 3D-structure;-Acetylation;-Autophagy;-Cell-membrane;-Chaperone;Complete-proteome;-Copper;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Fertilization;-Hydrolase;-Inflammatory-response;Isopeptide-bond;-Lipoprotein;-Membrane;-Mitochondrion;Neurodegeneration;-Nucleus;-Oxidation;-Palmitate;-Parkinson-disease;Parkinsonism;-Phosphoprotein;-Polymorphism;-Protease;Reference-proteome;-RNA-binding;-Stress-response;-Tumor-suppressor;Ubl-conjugation;-Zymogen. | Intracellular | Atlas | chr1 | 8022926-8022935;8029404-8029464;8030953-8030971 | 1 | 2 | 43 | 1 | -1 | 0 | 1 | 5190 | 150 | -5040 | -0.400000 | 0.000000 | A->S(probabledisease-associated E->D(inPARK7;noapparenteffecton |
74 | 1 | 0 | Unknown | 6.4468803471 |
572.018824793,5807.84483542 |
0.000000 |
| 742 | novel splice | A.GNSEVILPVP:LAMQEFMILPVGAANFR.E | AFNVINGGSHAGNK | PL | 149 | 11 | 1 | ENO1 | P06733 | 3D-structure;-Acetylation;-Alternative-initiation;-Cell-membrane;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-DNA-binding;Glycolysis;-Lyase;-Magnesium;-Membrane;-Metal-binding;-Nucleus;Phosphoprotein;-Plasminogen-activation;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 8926464-8926518;8927175-8927208 | 1 | 4 | 9 | 1 | 1 | 0 | -1 | 1985 | 315 | -1670 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 7.06750751864 |
506.395715522,5807.84483542 |
0 |
| 742 | novel splice | A.GNSEVILPVP:LAMQEFMILPVGAANFR.E | AFNVINGGSHAGNK | PL | 149 | 11 | 1 | ENO1 | K7EM90 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EM90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 8926464-8926518;8927175-8927208 | 1 | 4 | 9 | 1 | 1 | 0 | -1 | 1985 | 315 | -1670 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 1 | 0 | Unknown | 7.06750751864 |
506.395715522,5807.84483542 |
0 |
| 744 | novel splice | H.RVGETAPPNAYTVTDLV:YSIVIQQLSNGK.W | E | VY | 315 | 18 | 1 | DDOST | A0A0C4DGS1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|RuleBase:RU361142};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361142}. | Membrane-Bound | Atlas | chr1 | 20979422-20979461;20980119-20980173 | 1 | 4 | 6 | 1 | -1 | 0 | 1 | 190 | 385 | 195 | -1.300000 | -2.300000 | - | 9 | 1 | 0 | Targetable-Peptide | 4.20030279231 |
1297.81868105,5807.84483542 |
0 |
| 744 | novel splice | H.RVGETAPPNAYTVTDLV:YSIVIQQLSNGK.W | E | VY | 332 | 18 | 1 | DDOST | P39656 | Alternative-splicing;-Complete-proteome;Congenital-disorder-of-glycosylation;-Disease-mutation;Endoplasmic-reticulum;-Glycosyltransferase;-Membrane;-Polymorphism;Reference-proteome;-Signal;-Transferase;-Transmembrane; | Membrane-Bound | Atlas | chr1 | 20979422-20979461;20980119-20980173 | 1 | 4 | 6 | 1 | -1 | 0 | 1 | 190 | 385 | 195 | -1.300000 | -2.300000 | - | 9 | 1 | 0 | Lumenal | 4.20030279231 |
1297.81868105,5807.84483542 |
0 |
| 746 | novel splice | R.A:GPCPDGHFYLEHSAACLPCFCFGITSVCQSTR.R | RG | A | 503 | 1 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22211069-22211170;22211259-22211263 | 1 | 2 | 7 | 1 | 1 | 0 | -1 | 300 | 115 | -185 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 64 | 1676 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0 |
| 747 | novel splice | R.SLDG:AAVDSADR.S | AAA | GAAV | 548 | 7 | 1 | EPB41 | P11171 | 3D-structure;-Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Elliptocytosis;-Glycoprotein;-Hereditary-hemolytic-anemia;-Nucleus;Phosphoprotein;-Polymorphism;-Pyropoikilocytosis;-Reference-proteome. | Intracellular | Atlas | chr1 | 29365922-29365938;29379618-29379644 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 345 | 460 | 115 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 84 | 625 | Unknown | 1.88351841455 |
3588.74694545,5807.84483542 |
0.000000 |
| 747 | novel splice | R.SLDG:AAVDSADR.S | AAA | GAAV | 339 | 7 | 1 | EPB41 | Q4VB86 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q4VB86,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 29365922-29365938;29379618-29379644 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 345 | 460 | 115 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 84 | 625 | Unknown | 1.88351841455 |
3588.74694545,5807.84483542 |
0.000000 |
| 748 | novel splice | K.LQQGYNAMGFSQGGQFL:AV.A | R | LA | 122 | 18 | 1 | PPT1 | P50897 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Hydrolase;-Lysosome;Neurodegeneration;-Neuronal-ceroid-lipofuscinosis;-Polymorphism;Reference-proteome;-Sensory-transduction;-Signal;-Vision. | Intracellular | Atlas | chr1 | 40557058-40557068;40557716-40557769 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 285 | 60 | Hydrophobic;1.800000 | -0.500000 | R->W(inCLN1;seemstoresultin | 1 | 1 | 0 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0 |
| 748 | novel splice | K.LQQGYNAMGFSQGGQFL:AV.A | R | LA | 151 | 18 | 1 | PPT1 | E9PMG2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PMG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 40557058-40557068;40557716-40557769 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 285 | 60 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0 |
| 748 | novel splice | K.LQQGYNAMGFSQGGQFL:AV.A | R | LA | 122 | 18 | 1 | PPT1 | E9PK48 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PK48,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 40557058-40557068;40557716-40557769 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 285 | 60 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0 |
| 748 | novel splice | K.LQQGYNAMGFSQGGQFL:AV.A | R | LA | 72 | 18 | 1 | PPT1 | E9PP28 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PP28,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 40557058-40557068;40557716-40557769 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 285 | 60 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | Q5JR08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JR08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | E9PQH6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQH6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | Q5JR05 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | Q5JR06 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | Q5JR07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:Q5JR07};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 2 | 1 | 1 | RHOC | P08134 | 3D-structure;-ADP-ribosylation;-Cell-membrane;-Complete-proteome;Glycoprotein;-GTP-binding;-Lipoprotein;-Membrane;-Methylation;Nucleotide-binding;-Polymorphism;-Prenylation;-Reference-proteome. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 751 | novel splice | M.M:VELALWDTAGQEDYDR.L | AAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQ | M | 39 | 1 | 1 | RHOC | E9PN11 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245690-113245741;113246005-113246011 | 1 | 6 | 1 | 1 | -1 | 0 | 1 | 8190 | 185 | -8005 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 65 | 528 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0 |
| 753 | novel splice | K.ELTIGS:LQDAEIAR.L | K | SL | 47 | 7 | 1 | S100A6 | P06703 | 3D-structure;-Acetylation;-Calcium;-Cell-membrane;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Membrane;-Metal-binding;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 153507276-153507303;153507677-153507698 | 1 | 0 | 2 | 1 | 1 | 0 | -1 | 200 | 285 | 85 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 6.5866992585 |
559.983301642,5807.84483542 |
0 |
| 753 | novel splice | K.ELTIGS:LQDAEIAR.L | K | SL | 47 | 7 | 1 | S100A6 | R4GN98 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:R4GN98,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 153507276-153507303;153507677-153507698 | 1 | 0 | 2 | 1 | 1 | 0 | -1 | 200 | 285 | 85 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 6.5866992585 |
559.983301642,5807.84483542 |
0 |
| 757 | novel splice | K.ALHGEATNSMASDNQ:VR.K | PEGMISESLDNLESMMPNK | QV | 689 | 16 | 1 | ADAR | H0YCK3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCK3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 154569405-154569414;154569598-154569646 | 1 | 2 | 4 | 1 | -3 | 0 | 3 | 3020 | 335 | -2685 | Hydrophobic;4.200000 | -1.500000 | - | 13 | 65 | 724 | Unknown | 3.57211919712 |
1811.55716252,5807.84483542 |
0 |
| 757 | novel splice | K.ALHGEATNSMASDNQ:VR.K | PEGMISESLDNLESMMPNK | QV | 694 | 16 | 1 | ADAR | P55265 | 3D-structure;-Aicardi-Goutieres-syndrome;-Alternative-promoter-usage;Alternative-splicing;-Antiviral-defense;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-DNA-binding;-Hydrolase;Immunity;-Innate-immunity;-Isopeptide-bond;-Metal-binding;mRNA-processing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-RNA-mediated-gene-silencing;Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr1 | 154569405-154569414;154569598-154569646 | 1 | 2 | 4 | 1 | -3 | 0 | 3 | 3020 | 335 | -2685 | Hydrophobic;4.200000 | -1.500000 | - | 13 | 65 | 724 | Unknown | 3.57211919712 |
1811.55716252,5807.84483542 |
0 |
| 759 | novel splice | A.LK:YFQTVTDYGKDLMEK.V | VRRQAKEPCVESLVSQ | K | 21 | 2 | 1 | APOA2 | V9GYC1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:V9GYC1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 161192736-161192784;161193139-161193148 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 2650 | 200 | -2450 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 3 | Unknown | 6.04515101896 |
626.294380945,5807.84483542 |
0 |
| 759 | novel splice | A.LK:YFQTVTDYGKDLMEK.V | VRRQAKEPCVESLVSQ | K | 54 | 2 | 1 | APOA2 | V9GYM3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:V9GYM3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 161192736-161192784;161193139-161193148 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 2650 | 200 | -2450 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 3 | Unknown | 6.04515101896 |
626.294380945,5807.84483542 |
0 |
| 759 | novel splice | A.LK:YFQTVTDYGKDLMEK.V | VRRQAKEPCVESLVSQ | K | 21 | 2 | 1 | APOA2 | P02652 | 3D-structure;-Cleavage-on-pair-of-basic-residues;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-HDL;Host-virus-interaction;-Lipid-transport;-Oxidation;-Phosphoprotein;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Secreted;-Signal; | Intracellular | Atlas | chr1 | 161192736-161192784;161193139-161193148 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 2650 | 200 | -2450 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 3 | Unknown | 6.04515101896 |
626.294380945,5807.84483542 |
0 |
| 759 | novel splice | A.LK:YFQTVTDYGKDLMEK.V | VRRQAKEPCVESLVSQ | K | 21 | 2 | 1 | APOA2 | V9GYS1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:V9GYS1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 161192736-161192784;161193139-161193148 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 2650 | 200 | -2450 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 3 | Unknown | 6.04515101896 |
626.294380945,5807.84483542 |
0 |
| 759 | novel splice | A.LK:YFQTVTDYGKDLMEK.V | VRRQAKEPCVESLVSQ | K | 21 | 2 | 1 | APOA2 | V9GYG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:V9GYG9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 161192736-161192784;161193139-161193148 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 2650 | 200 | -2450 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 3 | Unknown | 6.04515101896 |
626.294380945,5807.84483542 |
0 |
| 761 | novel splice | P.P:ASGLGLAWIVGR.V | RI | P | 84 | 1 | 1 | MGST3 | Q5VV87 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5VV87,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 165621265-165621272;165623522-165623560 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 400 | 145 | -255 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Intra-Cellular-Peptide | 5.37835895219 |
782.32111899,5807.84483542 |
0.000000 |
| 761 | novel splice | P.P:ASGLGLAWIVGR.V | RI | P | 98 | 1 | 1 | MGST3 | Q5VV89 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5VV89,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 165621265-165621272;165623522-165623560 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 400 | 145 | -255 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Targetable-Peptide | 5.37835895219 |
782.32111899,5807.84483542 |
0.000000 |
| 761 | novel splice | P.P:ASGLGLAWIVGR.V | RI | P | 84 | 1 | 1 | MGST3 | O14880 | Complete-proteome;-Endoplasmic-reticulum;-Lipoprotein;-Membrane;Microsome;-Palmitate;-Polymorphism;-Reference-proteome;-Transferase;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr1 | 165621265-165621272;165623522-165623560 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 400 | 145 | -255 | -1.600000 | 0.000000 | - | 1 | 1 | 0 | Intra-Cellular-Peptide | 5.37835895219 |
782.32111899,5807.84483542 |
0.000000 |
| 764 | novel splice | R.KQEEQMETEH:INPVTEK.R | Q | HINPVTEKR | 326 | 10 | 1 | PSIP1 | O75475 | 3D-structure;-Alternative-splicing;-Chromosomal-rearrangement;Citrullination;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-DNA-binding;-Host-virus-interaction;Nucleus;-Phosphoprotein;-Reference-proteome;-Transcription; | Intracellular | Atlas | chr9 | 15471149-15471174;15472629-15472661 | 2 | 1 | 10 | 1 | 0 | 1 | 1 | 180 | 1585 | 1405 | -3.200000 | -0.500000 | - | 10 | 67 | 2220 | Unknown | 4.11896763621 |
1358.88404634,5807.84483542 |
0 |
| 765 | novel splice | R.MATEVAADALGEEWK:GV.L | YVVRISGGNDKQGFPMKQ | KGV | 48 | 17 | 1 | RPS6 | P62753 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr9 | 19378850-19378859;19379484-19379532 | 1 | 5 | 1 | 1 | 2 | 1 | -1 | 2890 | 430 | -2460 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 0 | Unknown | 4.85585267665 |
948.908130259,5807.84483542 |
0 |
| 768 | novel splice | K.SQ:GVQPIPSQGGK.L | GG | QGV | 936 | 4 | 1 | FAM120A | Q9NZB2 | Acetylation;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Cytoplasm;-Membrane;-Phosphoprotein;-Polymorphism;-Reference-proteome;RNA-binding;-Tumor-suppressor. | Intracellular | Atlas | chr9 | 96320987-96320997;96323390-96323425 | 1 | 6 | 26 | 1 | 0 | 0 | 0 | 150 | 410 | 260 | Hydrophobic;4.200000 | -1.500000 | - | 64 | 92 | 2562 | Unknown | 3.1643196345 |
2205.13995825,5807.84483542 |
0 |
| 768 | novel splice | K.SQ:GVQPIPSQGGK.L | PQTPELVEALAFREWTCPNLKRLWLGKAVEDKNRRMRAFLACMRSDTPAMLNPANVPTHLMVLCCVLRYMVQWPGARILRRQELDAFLAQALSPKLYEPDQLQELKIENLDPRGIQLSALFMSGVDMALFANDACGQPIPWEHCCPWMYFDGKLFQSKLLKASREKTPLIDLCDGQADQAAKVEKMRQSVLEGLSFSRQSHTLPFPPPPALPFYPASAYPRHFGPVPPSQGRGRGFA | Q | 75 | 2 | 1 | FAM120A | A0A0C4DG79 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG79,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 96320987-96320997;96323390-96323425 | 1 | 6 | 26 | 1 | 5 | 0 | -5 | 38820 | 180 | -38640 | -3.500000 | Hydrophilic;0.200000 | - | 64 | 92 | 2562 | Unknown | 3.1643196345 |
2205.13995825,5807.84483542 |
0 |
| 772 | novel splice | R.NGNLQY:DQTDGLGLSYLSSHIANVER.V | LHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDP | YDQ | 78 | 8 | 1 | GSN | A0A0A0MS51 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MS51,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124064405-124064426;124081011-124081074 | 1 | 12 | 1 | 1 | 3 | -1 | -4 | 46345 | 560 | -45785 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 6 | 7 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 772 | novel splice | R.NGNLQY:DQTDGLGLSYLSSHIANVER.V | LHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDP | YDQ | 112 | 8 | 1 | GSN | P06396 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-initiation;-Alternative-splicing;-Amyloid;-Amyloidosis;Calcium;-Cilium-biogenesis/degradation;-Complete-proteome;Corneal-dystrophy;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr9 | 124064405-124064426;124081011-124081074 | 1 | 12 | 1 | 1 | 3 | -1 | -4 | 46345 | 560 | -45785 | -3.500000 | Hydrophilic;0.200000 | A->T(indbSNP:rs2230287). T->I(inabreastcancersample; D->N(inAMYL5;dbSNP:rs121909715). D->Y(inAMYL5;dbSNP:rs121909715). N->D(indbSNP:rs11550199). |
3 | 6 | 7 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 772 | novel splice | R.NGNLQY:DQTDGLGLSYLSSHIANVER.V | LHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDP | YDQ | 97 | 8 | 1 | GSN | A0A0A0MT01 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MT01,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124064405-124064426;124081011-124081074 | 1 | 12 | 1 | 1 | 3 | -1 | -4 | 46345 | 560 | -45785 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 6 | 7 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 773 | novel splice | M.PGIVELPTLEELKVDE:IK.R | VKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEGKLVNKCALDFFRQ | EI | 18 | 17 | 1 | NDUFA8 | P51970 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Polymorphism;-Reference-proteome;Repeat;-Respiratory-chain;-Transport. | Intracellular | Atlas | chr9 | 124910543-124910552;124921905-124921956 | 1 | 2 | 2 | 1 | 3 | -1 | -4 | 9460 | 365 | -9095 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 4.02347361315 |
1414.97033225,5807.84483542 |
0 |
| 774 | novel splice | K.MGEEEALQSQ:VTK.D | ASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQ | SQV | 807 | 11 | 1 | SEC16A | F1T0I1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F1T0I1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 139368926-139368938;139369649-139369682 | 1 | 8 | 2 | 1 | -8 | 0 | 8 | 35295 | 450 | -34845 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 92 | 2149 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
0 |
| 774 | novel splice | K.MGEEEALQSQ:VTK.D | ASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQ | SQV | 807 | 11 | 1 | SEC16A | J3KNL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 139368926-139368938;139369649-139369682 | 1 | 8 | 2 | 1 | -8 | 0 | 8 | 35295 | 450 | -34845 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 92 | 2149 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
0 |
| 774 | novel splice | K.MGEEEALQSQ:VTK.D | ASSGYASLLSSPPTESLQNPPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPSSVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLVPDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQ | SQV | 629 | 11 | 1 | SEC16A | O15027 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;ER-Golgi-transport;-Golgi-apparatus;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr9 | 139368926-139368938;139369649-139369682 | 1 | 8 | 2 | 1 | -8 | 0 | 8 | 35295 | 450 | -34845 | Hydrophobic;4.200000 | -1.500000 | R->C(indbSNP:rs3812594). | 6 | 92 | 2149 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
0 |
| 778 | novel splice | R.E:LQEETPPGGPLTEALPPAR.K | VKQ | EL | 137 | 2 | 1 | NDUFB9 | Q9Y6M9 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Respiratory-chain;-Transport. | Intracellular | Atlas | chr8 | 125559348-125559354;125562010-125562070 | 1 | 3 | 2 | 1 | 1 | -1 | -2 | 535 | 360 | -175 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 2.76051832303 |
2566.06013909,5807.84483542 |
0 |
| 778 | novel splice | R.E:LQEETPPGGPLTEALPPAR.K | VKQ | EL | 126 | 2 | 1 | NDUFB9 | E9PH64 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PH64,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 125559348-125559354;125562010-125562070 | 1 | 3 | 2 | 1 | 1 | -1 | -2 | 535 | 360 | -175 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 0 | Unknown | 2.76051832303 |
2566.06013909,5807.84483542 |
0 |
| 782 | novel splice | R.AGTLQ:INGVDVTEAR.H | VGDRVLS | QI | 911 | 6 | 1 | SCRIB | A0A0G2JNZ2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JNZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144886962-144886995;144887124-144887142 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 1045 | 355 | -690 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 782 | novel splice | R.AGTLQ:INGVDVTEAR.H | VGDRVLS | QI | 911 | 6 | 1 | SCRIB | A0A0G2JPP5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JPP5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144886962-144886995;144887124-144887142 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 1045 | 355 | -690 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 782 | novel splice | R.AGTLQ:INGVDVTEAR.H | VGDRVLS | QI | 830 | 6 | 1 | SCRIB | A0A0G2JMS7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JMS7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144886962-144886995;144887124-144887142 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 1045 | 355 | -690 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 782 | novel splice | R.AGTLQ:INGVDVTEAR.H | VGDRVLS | QI | 911 | 6 | 1 | SCRIB | Q14160 | 3D-structure;-Alternative-splicing;-Cell-junction;-Cell-membrane;Cell-projection;-Coiled-coil;-Complete-proteome;-Cytoplasm;Developmental-protein;-Differentiation;-Disease-mutation;Host-virus-interaction;-Leucine-rich-repeat;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr8 | 144886962-144886995;144887124-144887142 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 1045 | 355 | -690 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 789 | translated UTR | R.EGAPIEPDPPVSHWKPEAV:YYEDGAR.I | Q | VY | 47 | 20 | 4 | PGAM5 | F5GXG4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GXG4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 133294324-133294384;133294575-133294599 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 385 | 205 | -1.300000 | -2.300000 | - | 13 | 92 | 8034 | Unknown | 2.69864903212 |
2575.48571663,5807.84483542 |
0.000000 |
| 789 | translated UTR | R.EGAPIEPDPPVSHWKPEAV:YYEDGAR.I | Q | VY | 196 | 20 | 4 | PGAM5 | Q96HS1 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Hydrolase;-Membrane;-Mitochondrion;-Mitochondrion-outer-membrane;Necrosis;-Phosphoprotein;-Reference-proteome;-Transmembrane; | Membrane-Bound | Atlas | chr12 | 133294324-133294384;133294575-133294599 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 385 | 205 | -1.300000 | -2.300000 | - | 13 | 92 | 8034 | Intra-Cellular-Peptide | 2.69864903212 |
2575.48571663,5807.84483542 |
0.000000 |
| 793 | translated UTR | R.GTRPEDSSVLIPTDNSTPHKEDLSSK:.I | TEQKCCLRAR | KI | 31 | 27 | 1 | ASNSD1 | U3KQE3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 190526255-190526336;190528626-190528629 | 6 | 2 | 84 | 1 | 2 | 1 | -1 | 1715 | 375 | -1340 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 67 | 5512 | Unknown | -1.6969270408 |
7719.57460004,5807.84483542 |
0.000000 |
| 804 | translated UTR | G.Q:CYYIGATDDAATK.I | KENRL | Q | 73 | 1 | 1 | MANF | A8K878 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8K878,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 51424471-51424477;51425167-51425209 | 1 | 7 | 1 | 1 | 1 | 0 | -1 | 945 | 180 | -765 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 77 | 369 | Unknown | 4.92795098298 |
925.534474247,5807.84483542 |
0 |
| 807 | translated UTR | K.DHP:QDHELIDPFPVPLVIIGSK.Y | PD | Q | 170 | 4 | 1 | DYNC2LI1 | Q8TCX1 | Alternative-splicing;-Cell-projection;-Cilium;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Developmental-protein;-Dynein;-Microtubule;Motor-protein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 44021770-44021782;44023025-44023085 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 295 | 180 | -115 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 67 | 2564 | Unknown | -0.449064058691 |
6378.66169044,5807.84483542 |
0.000000 |
| 807 | translated UTR | K.DHP:QDHELIDPFPVPLVIIGSK.Y | PD | Q | 154 | 4 | 1 | DYNC2LI1 | H7BYC8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BYC8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 44021770-44021782;44023025-44023085 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 295 | 180 | -115 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 67 | 2564 | Unknown | -0.449064058691 |
6378.66169044,5807.84483542 |
0.000000 |
| 817 | translated UTR | -.NQ:ETGDIVISNAYVDLAPTSGTSAK.T | RIHFQTKV | NQ | 583 | 1 | 1 | HSD17B4 | P51659 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Deafness;-Direct-protein-sequencing;-Disease-mutation;Fatty-acid-metabolism;-Isomerase;-Lipid-metabolism;-Lyase;-NAD;Oxidoreductase;-Peroxisome;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr5 | 118862907-118862914;118865595-118865666 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1480 | 340 | -1140 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 43 | 103 | Unknown | 3.84558951515 |
1577.96006327,5807.84483542 |
0 |
| 817 | translated UTR | -.NQ:ETGDIVISNAYVDLAPTSGTSAK.T | RIHFQTKV | NQ | 321 | 1 | 1 | HSD17B4 | E7EPL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EPL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 118862907-118862914;118865595-118865666 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1480 | 340 | -1140 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 43 | 103 | Unknown | 3.84558951515 |
1577.96006327,5807.84483542 |
0 |
| 817 | translated UTR | -.NQ:ETGDIVISNAYVDLAPTSGTSAK.T | RIHFQTKV | NQ | 443 | 1 | 1 | HSD17B4 | G5E9S2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G5E9S2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 118862907-118862914;118865595-118865666 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1480 | 340 | -1140 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 43 | 103 | Unknown | 3.84558951515 |
1577.96006327,5807.84483542 |
0 |
| 817 | translated UTR | -.NQ:ETGDIVISNAYVDLAPTSGTSAK.T | RIHFQTKV | NQ | 446 | 1 | 1 | HSD17B4 | E7ET17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ET17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 118862907-118862914;118865595-118865666 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1480 | 340 | -1140 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 43 | 103 | Unknown | 3.84558951515 |
1577.96006327,5807.84483542 |
0 |
| 817 | translated UTR | -.NQ:ETGDIVISNAYVDLAPTSGTSAK.T | RIHFQTKV | NQ | 559 | 1 | 1 | HSD17B4 | E7EWE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 118862907-118862914;118865595-118865666 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1480 | 340 | -1140 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 43 | 103 | Unknown | 3.84558951515 |
1577.96006327,5807.84483542 |
0 |
| 820 | translated UTR | A.E:FWEVISDEHGIDPTGTYHGDSDLQLDR.I | K | E | 19 | 1 | 1 | TUBB | P07437 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-GTP-binding;Isopeptide-bond;-Methylation;-Microtubule;-Nucleotide-binding;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 30689669-30689675;30690313-30690397 | 3 | 17 | 185 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 67 | 932 | Unknown | 7.3956680041 |
464.696517092,5807.84483542 |
0 |
| 825 | translated UTR | A.T:GKFEPPLFHPNVYPSGTVCLSILEEDKDWRPAITIK.Q | IPGKKGTPWEGGLFKLRMLFKDDYPSSPPKC | TG | 45 | 1 | 1 | UBE2I | P63279 | 3D-structure;-Acetylation;-ATP-binding;-Cell-cycle;-Cell-division;Chromosome-partition;-Complete-proteome;-Cytoplasm;Host-virus-interaction;-Isopeptide-bond;-Ligase;-Mitosis;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Reference-proteome;Ubl-conjugation;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr16 | 1369856-1369863;1370174-1370284 | 1 | 1 | 1 | 1 | 3 | 0 | -3 | 5020 | 215 | -4805 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 4.1472035399 |
1291.92616296,5807.84483542 |
0.000000 |
| 825 | translated UTR | A.T:GKFEPPLFHPNVYPSGTVCLSILEEDKDWRPAITIK.Q | IPGKKGTPWEGGLFKLRMLFKDDYPSSPPKC | TG | 45 | 1 | 1 | UBE2I | H3BQQ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BQQ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ubl-conjugation-pathway-{ECO:0000256|RuleBase:RU362109, | Intracellular | Atlas | chr16 | 1369856-1369863;1370174-1370284 | 1 | 1 | 1 | 1 | 3 | 0 | -3 | 5020 | 215 | -4805 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 4.1472035399 |
1291.92616296,5807.84483542 |
0.000000 |
| 825 | translated UTR | A.T:GKFEPPLFHPNVYPSGTVCLSILEEDKDWRPAITIK.Q | IPGKKGTPWEGGLFKLRMLFKDDYPSSPPKC | TG | 45 | 1 | 1 | UBE2I | B0QYN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QYN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ubl-conjugation-pathway-{ECO:0000256|RuleBase:RU362109, | Intracellular | Atlas | chr16 | 1369856-1369863;1370174-1370284 | 1 | 1 | 1 | 1 | 3 | 0 | -3 | 5020 | 215 | -4805 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 4.1472035399 |
1291.92616296,5807.84483542 |
0.000000 |
| 833 | translated UTR | R.VQAMQI:SEKEEDDNEK.R | SS | ISE | 107 | 8 | 1 | CDV3 | Q9UKY7 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr3 | 133293936-133293959;133302848-133302879 | 2 | 4 | 17 | 1 | 0 | -1 | -1 | 230 | 480 | 250 | -3.500000 | Hydrophilic;3.000000 | - | 24 | 1 | 0 | Unknown | 3.80940096047 |
1591.90803812,5807.84483542 |
0.000000 |
| 833 | translated UTR | R.VQAMQI:SEKEEDDNEK.R | SS | ISE | 61 | 8 | 1 | CDV3 | H0Y8K3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y8K3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 133293936-133293959;133302848-133302879 | 2 | 4 | 17 | 1 | 0 | -1 | -1 | 230 | 480 | 250 | -3.500000 | Hydrophilic;3.000000 | - | 24 | 1 | 0 | Unknown | 3.80940096047 |
1591.90803812,5807.84483542 |
0.000000 |
| 841 | translated UTR | R.S:LMKPEFLHLTPGVQLEAG:GDNLGQQYNSPQEVIGK.R | VS | SL | 406 | 1 | 1 | UMPS | P11172 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Decarboxylase;-Disease-mutation;-Glycosyltransferase;-Lyase;Multifunctional-enzyme;-Phosphoprotein;-Polymorphism;Pyrimidine-biosynthesis;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr3 | 124447543-124447551;124461060-124461113;124462761-124462814 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 270 | 285 | 15 | -0.800000 | Hydrophilic;0.300000 | - | 13 | 1 | 0 | Unknown | 3.47662655493 |
1882.18764638,5807.84483542 |
0 |
| 844 | translated UTR | -.GQ:DLRPGDVSSK.R | NKSPAPKPS | Q | 521 | 1 | 1 | CALD1 | E7EX44 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134647679-134647685;134650056-134650089 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1340 | 180 | -1160 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 14 | 21 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 844 | translated UTR | -.GQ:DLRPGDVSSK.R | NKSPAPKPS | Q | 757 | 1 | 1 | CALD1 | Q05682 | Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Muscle-protein;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr7 | 134647679-134647685;134650056-134650089 | 1 | 0 | 1 | 1 | 2 | 0 | -2 | 1340 | 180 | -1160 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 14 | 21 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 848 | frame shift | E.E:LPTIIADNAGYDSADLVAQLR.A | SYAKALRM | E | 438 | 1 | 1 | CCT2 | P78371 | Acetylation;-Alternative-splicing;-ATP-binding;-Chaperone;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Nucleotide-binding;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr12 | 69991540-69991546;69992101-69992167 | 2 | 2 | 26 | 1 | 2 | -1 | -3 | 1355 | 190 | -1165 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 5.50077323422 |
722.950739202,5807.84483542 |
0 |
| 848 | frame shift | E.E:LPTIIADNAGYDSADLVAQLR.A | SYAKALRM | E | 438 | 1 | 1 | CCT2 | F5GWF6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GWF6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 69991540-69991546;69992101-69992167 | 2 | 2 | 26 | 1 | 2 | -1 | -3 | 1355 | 190 | -1165 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 5.50077323422 |
722.950739202,5807.84483542 |
0 |
| 850 | frame shift | A.K:IMEELADALMYCHGK.K | T | K | 111 | 1 | 1 | AURKB | J3KT86 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KT86,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine/threonine-protein-kinase-{ECO:0000256|RuleBase:RU000304}; | Intracellular | Atlas | chr17 | 8109909-8109957;8110635-8110641 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -0.0509972606713 |
6060.19121391,5807.84483542 |
0 |
| 850 | frame shift | A.K:IMEELADALMYCHGK.K | T | K | 179 | 1 | 1 | AURKB | J3KTD6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KTD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine/threonine-protein-kinase-{ECO:0000256|RuleBase:RU000304}; | Intracellular | Atlas | chr17 | 8109909-8109957;8110635-8110641 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -0.0509972606713 |
6060.19121391,5807.84483542 |
0 |
| 850 | frame shift | A.K:IMEELADALMYCHGK.K | T | K | 139 | 1 | 1 | AURKB | J3QLN8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QLN8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine/threonine-protein-kinase-{ECO:0000256|RuleBase:RU000304}; | Intracellular | Atlas | chr17 | 8109909-8109957;8110635-8110641 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -0.0509972606713 |
6060.19121391,5807.84483542 |
0 |
| 850 | frame shift | A.K:IMEELADALMYCHGK.K | T | K | 179 | 1 | 1 | AURKB | Q96GD4 | 3D-structure;-Alternative-splicing;-ATP-binding;-Cell-cycle;Cell-division;-Centromere;-Chromosome;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Kinase;-Magnesium;-Metal-binding;-Mitosis;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Serine/threonine-protein-kinase;-Transferase; | Intracellular | Atlas | chr17 | 8109909-8109957;8110635-8110641 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | T->M(indbSNP:rs55871613). | 1 | 1 | 0 | Unknown | -0.0509972606713 |
6060.19121391,5807.84483542 |
0 |
| 850 | frame shift | A.K:IMEELADALMYCHGK.K | T | K | 138 | 1 | 1 | AURKB | J3QR41 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QR41,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine/threonine-protein-kinase-{ECO:0000256|RuleBase:RU000304}; | Intracellular | Atlas | chr17 | 8109909-8109957;8110635-8110641 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | -0.0509972606713 |
6060.19121391,5807.84483542 |
0 |
| 856 | frame shift | L.QT:EEEDFHVDQVTTVK.V | LTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKD | QT | 136 | 2 | 1 | SERPINA1 | P01009 | 3D-structure;-Acute-phase;-Alternative-splicing;-Blood-coagulation;Complete-proteome;-Direct-protein-sequencing;-Endoplasmic-reticulum;Extracellular-matrix;-Glycoprotein;-Hemostasis;-Phosphoprotein;Polymorphism;-Protease-inhibitor;-Reference-proteome;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr14 | 94845901-94845948;94847207-94847214 | 1 | 3 | 16 | 1 | -3 | 0 | 3 | 15285 | 320 | -14965 | -0.700000 | -0.400000 | G->S(inQO-Newport;dbSNP:rs11558261). G->R(inVandM-Nichinan; G->W(inM2-Obernburg; Q->E(inL-Frankfurt). QGKIVDLVK->GFQNAILVR(inAberrant |
1 | 1 | 0 | Unknown | 7.5865865059 |
436.266876412,5807.84483542 |
0 |
| 857 | frame shift | R.IPLNPYLNLHSLLPASNLAA:PGGGSSSSK.A | GKEARGWGGAGRSRRPAEGPPTNPP | AA | 540 | 20 | 1 | RAVER1 | E9PAU2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PAU2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10431426-10431458;10431533-10431594 | 1 | 4 | 3 | 1 | 3 | 0 | -3 | 3670 | 230 | -3440 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 1 | 0 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0 |
| 857 | frame shift | R.IPLNPYLNLHSLLPASNLAA:PGGGSSSSK.A | GKEARGWGGAGRSRRPAEGPPTNPP | AA | 523 | 20 | 1 | RAVER1 | A0A087WZ13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZ13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10431426-10431458;10431533-10431594 | 1 | 4 | 3 | 1 | 3 | 0 | -3 | 3670 | 230 | -3440 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 1 | 0 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0 |
| 873 | mutation | R.FSSACDM:GG:CTGALAR.E | V | M | 458 | 7 | 1 | ASMTL | O95671 | 3D-structure;-Alternative-splicing;-Complete-proteome;Methyltransferase;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chrX | 1536983-1537009;1537874-1537880;M1;1537881-1537902 | 2 | 3 | 3 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs4503285). | 9 | 25 | 2586 | Unknown | 2.19392349277 |
3264.94283463,5807.84483542 |
2.000000 |
| 874 | mutation | K.HDP:IPAADTFEDLSDVEGGGSEPTQR.D | S | P | 228 | 3 | 1 | ASMTL | O95671 | 3D-structure;-Alternative-splicing;-Complete-proteome;Methyltransferase;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chrX | 1546767-1546841;M1;1546842-1546851 | 1 | 2 | 14 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 33 | 20 | 1458 | Unknown | 2.19392349277 |
3264.94283463,5807.84483542 |
1.000000 |
| 875 | mutation | R.LLAAEGSHVTANVVDPGVVNTDL:YK.H | V | L | 247 | 23 | 1 | DHRSX | Q8N5I4 | Complete-proteome;-Oxidoreductase;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chrX | 2161117-2161128;M1;2161129-2161198 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs1127915). | 6 | 71 | 8997 | Unknown | -0.482825612325 |
6389.4194334,5807.84483542 |
1.677976 |
| 875 | mutation | R.LLAAEGSHVTANVVDPGVVNTDL:YK.H | V | L | 224 | 23 | 1 | DHRSX | C9JB06 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JB06,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 2161117-2161128;M1;2161129-2161198 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 71 | 8997 | Unknown | -0.482825612325 |
6389.4194334,5807.84483542 |
1.677976 |
| 876 | mutation | R.VWQTVSPVES:R.I | G | S | 2000 | 10 | 1 | MXRA5 | Q9NR99 | Complete-proteome;-Disulfide-bond;-Glycoprotein;-Leucine-rich-repeat;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chrX | 3235715-3235723;M1;3235724-3235754 | 2 | 10 | 9 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs1635242). | 6 | 54 | 5945 | Unknown | 1.79359240963 |
3685.77266319,5807.84483542 |
1.568183 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 477 | 2 | 1 | DMD | E7EQS5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7EQS5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 2932 | 2 | 1 | DMD | A0A087WV90 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WV90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 477 | 2 | 1 | DMD | F5GZY3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:F5GZY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 477 | 2 | 1 | DMD | F8VX32 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:F8VX32,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 477 | 2 | 1 | DMD | E7ESB2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7ESB2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 208 | 2 | 1 | DMD | E7EQR9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7EQR9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 633 | 2 | 1 | DMD | H0Y304 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0Y304,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 2937 | 2 | 1 | DMD | A0A075B6G3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B6G3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 2933 | 2 | 1 | DMD | E9PDN5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 878 | mutation | R.LQ:ELQEATDELDLK.L | R | Q | 2936 | 2 | 1 | DMD | A0A087WTU7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 31496309-31496349;M1;31496350-31496357 | 1 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 36 | 26 | 77 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 879 | mutation | R.DQAANLMANH:GDHCR.K | R | H | 1741 | 10 | 1 | DMD | A0A087WV90 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WV90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 32380976-32380995;M1;32380996-32381027 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 11 | 40 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 879 | mutation | R.DQAANLMANH:GDHCR.K | R | H | 1745 | 10 | 1 | DMD | A0A075B6G3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B6G3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 32380976-32380995;M1;32380996-32381027 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 11 | 40 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 879 | mutation | R.DQAANLMANH:GDHCR.K | R | H | 1745 | 10 | 1 | DMD | P11532 | 3D-structure;-Actin-binding;-Alternative-splicing;-Calcium;Cardiomyopathy;-Cell-junction;-Cell-membrane;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Postsynaptic-cell-membrane;Reference-proteome;-Repeat;-Synapse;-Zinc;-Zinc-finger. | Intracellular | Atlas | chrX | 32380976-32380995;M1;32380996-32381027 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1801187). | 1 | 11 | 40 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 879 | mutation | R.DQAANLMANH:GDHCR.K | R | H | 1741 | 10 | 1 | DMD | E9PDN5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 32380976-32380995;M1;32380996-32381027 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 11 | 40 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 879 | mutation | R.DQAANLMANH:GDHCR.K | R | H | 1745 | 10 | 1 | DMD | A0A087WTU7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 32380976-32380995;M1;32380996-32381027 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 11 | 40 | Unknown | -1.82297734484 |
7607.16246263,5807.84483542 |
0.000000 |
| 880 | mutation | K.RPPEQ:TTPWQEDPEPEDENLYEK:.N | P | Q | 51 | 5 | 1 | NDUFB11 | Q9NX14 | Alternative-splicing;-Cardiomyopathy;-Complete-proteome;Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Polymorphism;-Reference-proteome;Respiratory-chain;-Transit-peptide;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chrX | 47002140-47002143;47003871-47003926;M1;47003927-47003943 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 145 | 180 | 35 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 250 | Targetable-Peptide | 2.5659938526 |
2688.65745283,5807.84483542 |
0.000000 |
| 881 | mutation | R.LFGHSSTA:ALSAILR.S | S | A | 3119 | 8 | 1 | HUWE1 | Q7Z6Z7 | 3D-structure;-Acetylation;-Alternative-splicing;Chromosomal-rearrangement;-Complete-proteome;-Cytoplasm;Differentiation;-Disease-mutation;-DNA-damage;-DNA-repair;DNA-binding;-Ligase;-Mental-retardation;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation-pathway. | Intracellular | Atlas | chrX | 53577865-53577891;M1;53577892-53577916 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Unknown | -4.14382683354 |
8743.50622222,5807.84483542 |
0.000000 |
| 882 | mutation | P.G:PLIKVNDTIQIDLETGK.I | D | G | 151 | 1 | 2 | RPS4X | P62701 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Reference-proteome;-Ribonucleoprotein;Ribosomal-protein;-RNA-binding;-rRNA-binding. | Intracellular | Atlas | chrX | 71493675-71493730;M1;71493731-71493735 | 2 | 5 | 5 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 1 | 44 | 10993 | Unknown | 5.04442718578 |
867.724113317,5807.84483542 |
0.000000 |
| 883 | mutation | R.EELGHLQNDL:T:SLENDK.M | M | L | 349 | 10 | 1 | POF1B | Q8WVV4 | 3D-structure;-Actin-binding;-Alternative-splicing;-Cell-junction;Coiled-coil;-Complete-proteome;-Disease-mutation;-Polymorphism;Premature-ovarian-failure;-Reference-proteome;-Tight-junction. | Intracellular | Atlas | chrX | 84562261-84562282;84563129-84563134;M1;84563135-84563165 | 1 | 2 | 15 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | M->L(indbSNP:rs363774). | 35 | 52 | 819 | Unknown | 0.652680020662 |
4820.69796473,5807.84483542 |
1.000000 |
| 884 | mutation | R.DTV:NPLYDETLR:.Y | I | V | 420 | 3 | 1 | SYTL4 | Q96C24 | 3D-structure;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Cytoplasmic-vesicle;-Membrane;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chrX | 99941145-99941148;99941675-99941704;M1;99941705-99941714 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs2022039). | 3 | 62 | 539 | Unknown | -1.68855737877 |
7571.01062402,5807.84483542 |
1.975489 |
| 885 | mutation | W.LYF:TGNLASGGAAGATSLCFVYPLDFAR.T | A | T | 114 | 4 | 1 | SLC25A5 | P05141 | Acetylation;-Chromosome-partition;-Complete-proteome;Direct-protein-sequencing;-Host-virus-interaction;-Membrane;Methylation;-Mitochondrion;-Mitochondrion-inner-membrane;Polymorphism;-Reference-proteome;-Repeat;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chrX | 118603839-118603851;M1;118603852-118603929 | 2 | 20 | 17 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 250 | Intra-Cellular-Peptide | 4.74140399111 |
1006.96386267,5807.84483542 |
0.000000 |
| 886 | mutation | K.IIAEGAN:APTTPEADKIFLER.N | G | A | 407 | 8 | 1 | GLUD2 | P49448 | Acetylation;-ADP-ribosylation;-Complete-proteome;-Mitochondrion;-NADP;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chrX | 120182732-120182757;M1;120182758-120182801 | 1 | 30 | 40 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 6 | Unknown | -0.290666698592 |
6047.13984306,5807.84483542 |
0 |
| 887 | mutation | R.DSGCFEGSESGRDDAELAGTEEQLQGLSLA:R.A | G | R | 378 | 31 | 1 | SASH3 | O75995 | Complete-proteome;-Phosphoprotein;-Reference-proteome;-SH3-domain. | Intracellular | Atlas | chrX | 128927703-128927796;M1;128927797-128927802 | 1 | 2 | 2 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 196 | Unknown | 0.773235094465 |
4886.62096831,5807.84483542 |
0.000000 |
| 888 | mutation | R.:YLFAVTGNGLV:NQGNNPEVQVDTSKPDILILR.Q | A | V | 442 | 11 | 1 | GPC4 | O75487 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Glycoprotein;GPI-anchor;-Heparan-sulfate;-Lipoprotein;-Membrane;-Phosphoprotein;Polymorphism;-Proteoglycan;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chrX | 132437269-132437336;M1;132437337-132437369;132438752-132438754 | 2 | 1 | 6 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs1048369). | 6 | 31 | 3422 | Unknown | 2.19491817345 |
3142.52427654,5807.84483542 |
1.736852 |
| 891 | mutation | R.ISVATGALEAAQGSKP:QCQTR.Q | S | P | 1164 | 16 | 1 | HCFC1 | P51610 | 3D-structure;-Acetylation;-Alternative-splicing;Autocatalytic-cleavage;-Cell-cycle;-Chromatin-regulator;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Glycoprotein;-Host-virus-interaction;Isopeptide-bond;-Kelch-repeat;-Mental-retardation;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chrX | 153220339-153220359;M1;153220360-153220408 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs1051152). | 3 | 22 | 3747 | Unknown | - |
- |
0.000000 |
| 891 | mutation | R.ISVATGALEAAQGSKP:QCQTR.Q | S | P | 1164 | 16 | 1 | HCFC1 | A6NEM2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Kelch-repeat-{ECO:0000256|SAAS:SAAS00436202};Proteomics-identification-{ECO:0000213|EPD:A6NEM2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153220339-153220359;M1;153220360-153220408 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 22 | 3747 | Unknown | - |
- |
0.000000 |
| 892 | mutation | R.PS:PFCWPLCEISR.G | F | S | 222 | 2 | 1 | IRAK1 | D3YTB5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D3YTB5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153284154-153284191;M1;153284192-153284199 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 210 | 115 | -95 | -0.800000 | Hydrophilic;0.300000 | - | 11 | 70 | 14100 | Unknown | - |
- |
0.000000 |
| 892 | mutation | R.PS:PFCWPLCEISR.G | F | S | 196 | 2 | 1 | IRAK1 | P51617 | Alternative-splicing;-ATP-binding;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Immunity;-Innate-immunity;-Isopeptide-bond;Kinase;-Lipid-droplet;-Magnesium;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;Serine/threonine-protein-kinase;-Transferase;-Ubl-conjugation. | Intracellular | Atlas | chrX | 153284154-153284191;M1;153284192-153284199 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 210 | 115 | -95 | -0.800000 | Hydrophilic;0.300000 | F->S(indbSNP:rs1059702). | 11 | 70 | 14100 | Unknown | - |
- |
0.000000 |
| 892 | mutation | R.PS:PFCWPLCEISR.G | F | S | 222 | 2 | 1 | IRAK1 | F8WAB6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAB6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153284154-153284191;M1;153284192-153284199 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 210 | 115 | -95 | -0.800000 | Hydrophilic;0.300000 | - | 11 | 70 | 14100 | Unknown | - |
- |
0.000000 |
| 893 | mutation | K.AFGPGLQGGSAGSPAH:FTIDTK.G | R | H | 1087 | 16 | 1 | FLNA | Q5HY54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5HY54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153588880-153588902;M1;153588903-153588952 | 1 | 11 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 893 | mutation | K.AFGPGLQGGSAGSPAH:FTIDTK.G | R | H | 1087 | 16 | 1 | FLNA | P21333 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation. | Intracellular | Atlas | chrX | 153588880-153588902;M1;153588903-153588952 | 1 | 11 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 893 | mutation | K.AFGPGLQGGSAGSPAH:FTIDTK.G | R | H | 1060 | 16 | 1 | FLNA | A0A087WWY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153588880-153588902;M1;153588903-153588952 | 1 | 11 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 893 | mutation | K.AFGPGLQGGSAGSPAH:FTIDTK.G | R | H | 1060 | 16 | 1 | FLNA | Q60FE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q60FE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153588880-153588902;M1;153588903-153588952 | 1 | 11 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 894 | mutation | K.IVGPL:GAAVPCKVEPGLGADNSVVR.F | S | L | 1012 | 5 | 1 | FLNA | Q5HY54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5HY54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153589783-153589847;M1;153589848-153589864 | 2 | 6 | 9 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 894 | mutation | K.IVGPL:GAAVPCKVEPGLGADNSVVR.F | S | L | 1012 | 5 | 1 | FLNA | P21333 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation. | Intracellular | Atlas | chrX | 153589783-153589847;M1;153589848-153589864 | 2 | 6 | 9 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs17091204). | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 894 | mutation | K.IVGPL:GAAVPCKVEPGLGADNSVVR.F | S | L | 985 | 5 | 1 | FLNA | A0A087WWY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153589783-153589847;M1;153589848-153589864 | 2 | 6 | 9 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 894 | mutation | K.IVGPL:GAAVPCKVEPGLGADNSVVR.F | S | L | 985 | 5 | 1 | FLNA | Q60FE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q60FE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153589783-153589847;M1;153589848-153589864 | 2 | 6 | 9 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 895 | mutation | K.CAPGVVGS:AEADIDFDIIR.N | P | S | 817 | 8 | 1 | FLNA | Q5HY54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5HY54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153590863-153590901;M1;153590902-153590926 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | - |
- |
0 |
| 895 | mutation | K.CAPGVVGS:AEADIDFDIIR.N | P | S | 817 | 8 | 1 | FLNA | P21333 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation. | Intracellular | Atlas | chrX | 153590863-153590901;M1;153590902-153590926 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | - |
- |
0 |
| 895 | mutation | K.CAPGVVGS:AEADIDFDIIR.N | P | S | 790 | 8 | 1 | FLNA | A0A087WWY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153590863-153590901;M1;153590902-153590926 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | - |
- |
0 |
| 895 | mutation | K.CAPGVVGS:AEADIDFDIIR.N | P | S | 790 | 8 | 1 | FLNA | Q60FE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q60FE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153590863-153590901;M1;153590902-153590926 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | - |
- |
0 |
| 896 | mutation | C.T:YQPTMEGVHTVHVTFAGVPIPR.S | S | T | 445 | 1 | 1 | FLNA | Q5HY54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5HY54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153594416-153594486;M1;153594487-153594491 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 896 | mutation | C.T:YQPTMEGVHTVHVTFAGVPIPR.S | S | T | 445 | 1 | 1 | FLNA | P21333 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation. | Intracellular | Atlas | chrX | 153594416-153594486;M1;153594487-153594491 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 896 | mutation | C.T:YQPTMEGVHTVHVTFAGVPIPR.S | S | T | 418 | 1 | 1 | FLNA | A0A087WWY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153594416-153594486;M1;153594487-153594491 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 896 | mutation | C.T:YQPTMEGVHTVHVTFAGVPIPR.S | S | T | 418 | 1 | 1 | FLNA | Q60FE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q60FE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153594416-153594486;M1;153594487-153594491 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 896 | mutation | C.T:YQPTMEGVHTVHVTFAGVPIPR.S | S | T | 431 | 1 | 1 | FLNA | F8WE98 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WE98,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chrX | 153594416-153594486;M1;153594487-153594491 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 897 | mutation | R.GGVDTAT:APAGGAPPAHAPGPGR.D | A | T | 31 | 7 | 1 | LAGE3 | Q14657 | Complete-proteome;-Nucleus;-Reference-proteome;-tRNA-processing. | Intracellular | Atlas | chrX | 153707110-153707163;M1;153707164-153707185 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 898 | mutation | R.LNSHMD:ALHLGSQANR.L | N | D | 126 | 6 | 1 | G6PD | P11413 | 3D-structure;-Acetylation;-Alternative-splicing;Carbohydrate-metabolism;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Glucose-metabolism;-Hereditary-hemolytic-anemia;NADP;-Oxidoreductase;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chrX | 153763456-153763491;M1;153763492-153763510 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | N->D(inNSHA;SantaMariaandMount | 6 | 5 | 1034 | Unknown | - |
- |
0.000000 |
| 898 | mutation | R.LNSHMD:ALHLGSQANR.L | N | D | 126 | 6 | 1 | G6PD | E9PD92 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PD92,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153763456-153763491;M1;153763492-153763510 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 5 | 1034 | Unknown | - |
- |
0.000000 |
| 898 | mutation | R.LNSHMD:ALHLGSQANR.L | N | D | 126 | 6 | 1 | G6PD | E7EUI8 | Carbohydrate-metabolism-{ECO:0000256|RuleBase:RU362120};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Glucose-metabolism-{ECO:0000256|RuleBase:RU362120};Proteomics-identification-{ECO:0000213|EPD:E7EUI8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153763456-153763491;M1;153763492-153763510 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 5 | 1034 | Unknown | - |
- |
0.000000 |
| 898 | mutation | R.LNSHMD:ALHLGSQANR.L | N | D | 126 | 6 | 1 | G6PD | E7EM57 | Carbohydrate-metabolism-{ECO:0000256|RuleBase:RU362120};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Glucose-metabolism-{ECO:0000256|RuleBase:RU362120};Proteomics-identification-{ECO:0000213|EPD:E7EM57,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153763456-153763491;M1;153763492-153763510 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 5 | 1034 | Unknown | - |
- |
0.000000 |
| 899 | mutation | R.DGLLPENTFIM:GYAR.S | V | M | 68 | 11 | 1 | G6PD | P11413 | 3D-structure;-Acetylation;-Alternative-splicing;Carbohydrate-metabolism;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Glucose-metabolism;-Hereditary-hemolytic-anemia;NADP;-Oxidoreductase;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chrX | 153764199-153764216;M1;153764217-153764250 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(inNSHA;A(-)typeI;classIII; | 3 | 4 | 715 | Unknown | - |
- |
0.000000 |
| 899 | mutation | R.DGLLPENTFIM:GYAR.S | V | M | 68 | 11 | 1 | G6PD | E9PD92 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PD92,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153764199-153764216;M1;153764217-153764250 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 4 | 715 | Unknown | - |
- |
0.000000 |
| 899 | mutation | R.DGLLPENTFIM:GYAR.S | V | M | 68 | 11 | 1 | G6PD | E7EUI8 | Carbohydrate-metabolism-{ECO:0000256|RuleBase:RU362120};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Glucose-metabolism-{ECO:0000256|RuleBase:RU362120};Proteomics-identification-{ECO:0000213|EPD:E7EUI8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153764199-153764216;M1;153764217-153764250 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 4 | 715 | Unknown | - |
- |
0.000000 |
| 899 | mutation | R.DGLLPENTFIM:GYAR.S | V | M | 68 | 11 | 1 | G6PD | E7EM57 | Carbohydrate-metabolism-{ECO:0000256|RuleBase:RU362120};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Glucose-metabolism-{ECO:0000256|RuleBase:RU362120};Proteomics-identification-{ECO:0000213|EPD:E7EM57,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chrX | 153764199-153764216;M1;153764217-153764250 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 4 | 715 | Unknown | - |
- |
0.000000 |
| 900 | mutation | K.V:TETQAQVDELK.G | M | T | 127 | 2 | 1 | VAMP7 | P51809 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-junction;Coiled-coil;-Complete-proteome;-Cytoplasmic-vesicle;Direct-protein-sequencing;-Endoplasmic-reticulum;-Endosome;Exocytosis;-Golgi-apparatus;-Lysosome;-Membrane;-Phosphoprotein;Protein-transport;-Reference-proteome;-Signal-anchor;-Synapse;Synaptosome;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chrX | 155130190-155130197;M1;155130198-155130232 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 3 | 1 | 116 | Vesicular | 1.92067500068 |
3533.1386194,5807.84483542 |
0.000000 |
| 901 | mutation | R.SSPTLLTPG:MMENLFHEMGH.A | S | G | 488 | 9 | 1 | MIPEP | Q99797 | Acetylation;-Calcium;-Cobalt;-Complete-proteome;-Hydrolase;-Iron;Magnesium;-Manganese;-Metal-binding;-Metalloprotease;-Mitochondrion;Polymorphism;-Protease;-Reference-proteome;-Transit-peptide;-Zinc. | Intracellular | Atlas | chr13 | 24411733-24411771;M1;24411772-24411799 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs7333040). | 22 | 85 | 6431 | Unknown | 1.63971914561 |
3917.62719286,5807.84483542 |
1.928546 |
| 902 | mutation | K.DDSIP:CFLEVK.E | L | P | 1550 | 5 | 1 | PARP4 | Q9UKK3 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Transferase. | Intracellular | Atlas | chr13 | 25008607-25008629;M1;25008630-25008646 | 2 | 6 | 25 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 54 | 84 | 16563 | Unknown | 1.58652515341 |
4051.99083204,5807.84483542 |
0.000000 |
| 903 | mutation | K.VSPWETSTSSFFPILAPAVGSYLT:PTAR.A | P | T | 1328 | 24 | 1 | PARP4 | Q9UKK3 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Transferase. | Intracellular | Atlas | chr13 | 25009279-25009296;M1;25009297-25009369 | 1 | 5 | 13 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 35 | 34 | 6977 | Unknown | 1.58652515341 |
4051.99083204,5807.84483542 |
0.000000 |
| 904 | mutation | K.EFC:TMVSTTELQK.T | R | C | 1108 | 3 | 1 | PARP4 | Q9UKK3 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Transferase. | Intracellular | Atlas | chr13 | 25020827-25020862;M1;25020863-25020872 | 1 | 0 | 20 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 46 | 83 | 13576 | Unknown | 1.58652515341 |
4051.99083204,5807.84483542 |
0.000000 |
| 906 | mutation | K.QIT:LHALSLVGEK.Q | A | T | 899 | 3 | 1 | PARP4 | Q9UKK3 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Transferase. | Intracellular | Atlas | chr13 | 25029182-25029217;M1;25029218-25029227 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs2275660). | 6 | 58 | 7776 | Unknown | 1.58652515341 |
4051.99083204,5807.84483542 |
1.657054 |
| 907 | mutation | K.ESDIMTTT:GVIHVVDK.L | N | T | 618 | 8 | 1 | POSTN | Q15063 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Gamma-carboxyglutamic-acid;Glycoprotein;-Golgi-apparatus;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 38153168-38153196;M1;38153197-38153222 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 140 | -20 | -0.700000 | -0.400000 | - | 15 | 1 | 141 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 907 | mutation | K.ESDIMTTT:GVIHVVDK.L | N | T | 618 | 8 | 1 | POSTN | B1ALD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B1ALD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr13 | 38153168-38153196;M1;38153197-38153222 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 140 | -20 | -0.700000 | -0.400000 | - | 15 | 1 | 141 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 908 | mutation | R.IIHGNQIATNGVVHVIDG:V.L | R | G | 228 | 18 | 1 | POSTN | Q15063 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Gamma-carboxyglutamic-acid;Glycoprotein;-Golgi-apparatus;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 38160981-38160989;M1;38160990-38161044 | 1 | 5 | 2 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 1 | 8 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 908 | mutation | R.IIHGNQIATNGVVHVIDG:V.L | R | G | 228 | 18 | 1 | POSTN | B1ALD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B1ALD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr13 | 38160981-38160989;M1;38160990-38161044 | 1 | 5 | 2 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 1 | 8 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 909 | mutation | G.SFTYFAR:SNEAWDNLDS:DIR.R | P | R | 137 | 7 | 1 | POSTN | Q15063 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Gamma-carboxyglutamic-acid;Glycoprotein;-Golgi-apparatus;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 38162111-38162123;38164508-38164539;M1;38164540-38164562 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 1 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 909 | mutation | G.SFTYFAR:SNEAWDNLDS:DIR.R | P | R | 137 | 7 | 1 | POSTN | B1ALD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B1ALD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr13 | 38162111-38162123;38164508-38164539;M1;38164540-38164562 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 1 | Unknown | 5.21560404991 |
801.961573368,5807.84483542 |
0.000000 |
| 910 | mutation | K.DLGSVQGFED:TNK.S | E | D | 1429 | 10 | 1 | ZC3H13 | Q5T200 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Isopeptide-bond;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr13 | 46541660-46541672;M1;46541673-46541705 | 1 | 2 | 13 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs9534264). | 30 | 71 | 4775 | Unknown | -0.683307688871 |
6688.72430404,5807.84483542 |
1.885069 |
| 911 | mutation | R.SFQ:GPVLIGSSHGGVNIEDVAAET:PEAIIKEPIDIEEGIK.K | S | T | 129 | 24 | 1 | SUCLA2 | Q5T9Q5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T9Q5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr13 | 48547413-48547466;M1;48547467-48547527;48562675-48562687 | 2 | 5 | 72 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 78 | 8333 | Unknown | 3.24212006203 |
2111.60594956,5807.84483542 |
0.000000 |
| 911 | mutation | R.SFQ:GPVLIGSSHGGVNIEDVAAET:PEAIIKEPIDIEEGIK.K | S | T | 199 | 24 | 1 | SUCLA2 | Q9P2R7 | Acetylation;-Alternative-splicing;-ATP-binding;-Complete-proteome;Disease-mutation;-Ligase;-Mitochondrion;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transit-peptide;Tricarboxylic-acid-cycle. | Intracellular | Atlas | chr13 | 48547413-48547466;M1;48547467-48547527;48562675-48562687 | 2 | 5 | 72 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs7320366). | 3 | 78 | 8333 | Unknown | 3.24212006203 |
2111.60594956,5807.84483542 |
0.000000 |
| 912 | mutation | R.SSGP:CGGGGQYFAK.P | Y | C | 289 | 5 | 1 | HNRNPA1L2 | Q32P51 | Acetylation;-Complete-proteome;-Cytoplasm;-Methylation;mRNA-processing;-mRNA-splicing;-mRNA-transport;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Ribonucleoprotein;-RNA-binding;-Spliceosome;-Transport. | Intracellular | Atlas | chr13 | 53217476-53217492;M1;53217493-53217524 | 2 | 22 | 26 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 31 | 8 | 1740 | Unknown | 0.92013770397 |
6146.47859063,5807.84483542 |
0.000000 |
| 913 | mutation | K.SQWVAPSSVVLHDEGQNEEDVEKEEER:.E | T | R | 164 | 27 | 1 | DIS3 | G3V1J5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1J5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr13 | 73349354-73349358;M1;73349359-73349441 | 1 | 3 | 4 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 12 | 40 | 1687 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
1.727511 |
| 913 | mutation | K.SQWVAPSSVVLHDEGQNEEDVEKEEER:.E | T | R | 326 | 27 | 1 | DIS3 | F2Z2C0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z2C0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr13 | 73349354-73349358;M1;73349359-73349441 | 1 | 3 | 4 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 12 | 40 | 1687 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
1.727511 |
| 913 | mutation | K.SQWVAPSSVVLHDEGQNEEDVEKEEER:.E | T | R | 326 | 27 | 1 | DIS3 | Q9Y2L1 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Endonuclease;-Exonuclease;-Exosome;-Hydrolase;-Magnesium;-Manganese;Nuclease;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;RNA-binding;-rRNA-processing. | Intracellular | Atlas | chr13 | 73349354-73349358;M1;73349359-73349441 | 1 | 3 | 4 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | T->R(indbSNP:rs7332388). | 12 | 40 | 1687 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
1.727511 |
| 914 | mutation | R.ENYLEATVWIHGDS:EENK.E | N | S | 107 | 14 | 1 | DIS3 | G3V1J5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1J5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr13 | 73350062-73350078;M1;73350079-73350122 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 40 | 1637 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
2.200163 |
| 914 | mutation | R.ENYLEATVWIHGDS:EENK.E | N | S | 269 | 14 | 1 | DIS3 | F2Z2C0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z2C0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr13 | 73350062-73350078;M1;73350079-73350122 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 40 | 1637 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
2.200163 |
| 914 | mutation | R.ENYLEATVWIHGDS:EENK.E | N | S | 269 | 14 | 1 | DIS3 | Q9Y2L1 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Endonuclease;-Exonuclease;-Exosome;-Hydrolase;-Magnesium;-Manganese;Nuclease;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;RNA-binding;-rRNA-processing. | Intracellular | Atlas | chr13 | 73350062-73350078;M1;73350079-73350122 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs4883918). | 6 | 40 | 1637 | Unknown | 1.87252385318 |
3664.60573837,5807.84483542 |
2.200163 |
| 915 | mutation | K.LEFEN:FVEETSHFVR.T | L | F | 86 | 6 | 1 | GPC6 | Q9Y625 | Cell-membrane;-Complete-proteome;-Dwarfism;-Glycoprotein;-GPI-anchor;Heparan-sulfate;-Lipoprotein;-Membrane;-Polymorphism;-Proteoglycan;Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 94197592-94197610;M1;94197611-94197643 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 4 | 37 | Unknown | 0.678664822327 |
5134.09324029,5807.84483542 |
0.000000 |
| 916 | mutation | K.FSTMPFLFCNINNVCS:FASR.N | N | S | 1512 | 16 | 1 | COL4A1 | P02462 | 3D-structure;-Alternative-splicing;-Angiogenesis;-Basement-membrane;Collagen;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr13 | 110813627-110813643;M1;110813644-110813693 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 76 | Unknown | 1.23020481575 |
4450.87540756,5807.84483542 |
0.000000 |
| 917 | mutation | K.IA:IQPGTVGPQGR.- | V | I | 1399 | 3 | 1 | COL4A2 | P08572 | 3D-structure;-Angiogenesis;-Basement-membrane;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;-Hydroxylation;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr13 | 111156240-111156249;M1;111156250-111156282 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs45520539). | 20 | 6 | 1310 | Unknown | 2.17034141057 |
3278.81108965,5807.84483542 |
1.000000 |
| 918 | mutation | K.AYSPELIVHPV:LDSPNAVHEVE:EWLPR.L | K | E | 140 | 23 | 1 | CARKD | Q8IW45 | Alternative-splicing;-ATP-binding;-Complete-proteome;-Glycoprotein;Lyase;-Mitochondrion;-NAD;-NADP;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr13 | 111277587-111277625;111279785-111279816;M1;111279817-111279834 | 1 | 1 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs3742191). | 3 | 5 | 307 | Unknown | 2.40166553759 |
3001.71529491,5807.84483542 |
3.000000 |
| 919 | mutation | K.LVGVVPGPVE:EPA:DSDK.R | G | E | 216 | 10 | 1 | CARS2 | Q9HA77 | Aminoacyl-tRNA-synthetase;-ATP-binding;-Complete-proteome;Disease-mutation;-Ligase;-Metal-binding;-Mitochondrion;Nucleotide-binding;-Polymorphism;-Protein-biosynthesis;Reference-proteome;-Transit-peptide;-Zinc. | Intracellular | Atlas | chr13 | 111329433-111329450;111335397-111335405;M1;111335406-111335437 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 193 | Unknown | 1.30075249786 |
4320.45168082,5807.84483542 |
2.321928 |
| 920 | mutation | K.AVELGDELQID:SIDDQK.C | A | S | 586 | 12 | 1 | CHAMP1 | Q96JM3 | Acetylation;-Centromere;-Chromosome;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Isopeptide-bond;-Kinetochore;-Mental-retardation;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr13 | 115091036-115091072;M1;115091073-115091093 | 1 | 15 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 6 | 180 | Unknown | 1.68379233365 |
3827.56524959,5807.84483542 |
1.861654 |
| 921 | mutation | R.AVDVVLDCFL:VK.D | A | V | 42 | 11 | 1 | TAPBPL | Q9BX59 | Alternative-splicing;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Golgi-apparatus;-Immunity;-Immunoglobulin-domain;-Membrane;-Microsome;Polymorphism;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr12 | 6562258-6562292;M1;6562293-6562300 | 2 | 0 | 56 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs2041385). | 1 | 34 | 5666 | Lumenal | 0.434221015218 |
5327.49522457,5807.84483542 |
0.000000 |
| 922 | mutation | K.NE:VLWHPTLNLPLSPQGTVR.T | A | V | 92 | 3 | 1 | TAPBPL | G3V1T3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:G3V1T3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 6562812-6562822;M1;6562823-6562878 | 1 | 0 | 30 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 69 | 39 | 7443 | Unknown | 0.434221015218 |
5327.49522457,5807.84483542 |
0.000000 |
| 922 | mutation | K.NE:VLWHPTLNLPLSPQGTVR.T | A | V | 169 | 3 | 1 | TAPBPL | Q9BX59 | Alternative-splicing;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Golgi-apparatus;-Immunity;-Immunoglobulin-domain;-Membrane;-Microsome;Polymorphism;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr12 | 6562812-6562822;M1;6562823-6562878 | 1 | 0 | 30 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs2041387). | 69 | 39 | 7443 | Lumenal | 0.434221015218 |
5327.49522457,5807.84483542 |
0.000000 |
| 923 | mutation | K.LVQGELT:DIPGK.I | I | T | 217 | 7 | 1 | LPCAT3 | F5H0M4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Membrane-{ECO:0000256|SAAS:SAAS00462766,-ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|EPD:F5H0M4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00462766, | Membrane-Bound | Atlas | chr12 | 7090173-7090192;M1;7090193-7090215 | 2 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 15 | 3244 | Intra-Cellular-Peptide | - |
- |
0.000000 |
| 923 | mutation | K.LVQGELT:DIPGK.I | I | T | 217 | 7 | 1 | LPCAT3 | Q6P1A2 | Acetylation;-Acyltransferase;-Alternative-splicing;-Complete-proteome;Endoplasmic-reticulum;-Lipid-biosynthesis;-Lipid-metabolism;-Membrane;Phospholipid-biosynthesis;-Phospholipid-metabolism;-Polymorphism;Reference-proteome;-Transferase;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 7090173-7090192;M1;7090193-7090215 | 2 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs1984564). | 3 | 15 | 3244 | Targetable-Peptide | - |
- |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 40 | 16 | 2 | C1R | P00736 | 3D-structure;-Complement-pathway;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-EGF-like-domain;Glycoprotein;-Hydrolase;-Hydroxylation;-Immunity;-Innate-immunity;Phosphoprotein;-Polymorphism;-Protease;-Reference-proteome;-Repeat;Serine-protease;-Signal;-Sushi. | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 40 | 16 | 2 | C1R | F5H6Y3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5H6Y3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 40 | 16 | 2 | C1R | F5H3N3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00437756};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5H3N3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 40 | 16 | 2 | C1R | F5H2D0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|PIRSR:PIRSR001155-2,EGF-like-domain-{ECO:0000256|RuleBase:RU000459,Proteomics-identification-{ECO:0000213|PeptideAtlas:F5H2D0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 40 | 16 | 2 | C1R | F5H1V0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5H1V0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 924 | mutation | K.LFGEVTSPLFPKPYPD:NFETTTVITVPTGYR.V | N | D | 54 | 16 | 2 | C1R | B4DPQ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|PIRSR:PIRSR001155-2,EGF-like-domain-{ECO:0000256|SAAS:SAAS00438935};Proteomics-identification-{ECO:0000213|PeptideAtlas:B4DPQ0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 7244110-7244160;M1;7244161-7244209 | 1 | 0 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 2.75715064863 |
2523.23329245,5807.84483542 |
0.000000 |
| 925 | mutation | K.GFGHIWLDSVSCQGHEPAV:WQCK.H | I | V | 342 | 19 | 1 | CD163 | Q86VB7 | Acute-phase;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Disulfide-bond;-Glycoprotein;-Inflammatory-response;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted;Signal;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 7649466-7649483;M1;7649484-7649541 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs4883263). | 1 | 64 | 4051 | Targetable | 1.97121917266 |
3462.82677196,5807.84483542 |
2.189444 |
| 925 | mutation | K.GFGHIWLDSVSCQGHEPAV:WQCK.H | I | V | 330 | 19 | 1 | CD163 | F5GZZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00434285};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5GZZ9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr12 | 7649466-7649483;M1;7649484-7649541 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 64 | 4051 | Targetable-Peptide | 1.97121917266 |
3462.82677196,5807.84483542 |
2.189444 |
| 925 | mutation | K.GFGHIWLDSVSCQGHEPAV:WQCK.H | I | V | 342 | 19 | 1 | CD163 | C9JHR8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00434285};Proteomics-identification-{ECO:0000213|PeptideAtlas:C9JHR8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr12 | 7649466-7649483;M1;7649484-7649541 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 64 | 4051 | Targetable-Peptide | 1.97121917266 |
3462.82677196,5807.84483542 |
2.189444 |
| 926 | mutation | K.EQV:PHCICANGR.Q | A | V | 844 | 3 | 1 | A2M | P01023 | 3D-structure;-Bait-region;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Isopeptide-bond;-Polymorphism;-Protease-inhibitor;-Reference-proteome;Secreted;-Serine-protease-inhibitor;-Signal;-Thioester-bond. | Intracellular | Atlas | chr12 | 9242985-9243016;M1;9243017-9243027 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 230 | Unknown | 4.55754565511 |
1077.83034073,5807.84483542 |
0.000000 |
| 927 | mutation | K.DLTGFPGPLNDQDD:EDCINR.H | N | D | 639 | 14 | 1 | A2M | P01023 | 3D-structure;-Bait-region;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Isopeptide-bond;-Polymorphism;-Protease-inhibitor;-Reference-proteome;Secreted;-Serine-protease-inhibitor;-Signal;-Thioester-bond. | Intracellular | Atlas | chr12 | 9248209-9248232;M1;9248233-9248275 | 2 | 2 | 38 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | N->D(indbSNP:rs226405). | 1 | 67 | 12078 | Unknown | 4.55754565511 |
1077.83034073,5807.84483542 |
0.000000 |
| 928 | mutation | R.AVDQSVLLMKPDAELSASL::VYNLLPEK.D | S | L | 617 | 19 | 1 | A2M | P01023 | 3D-structure;-Bait-region;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Isopeptide-bond;-Polymorphism;-Protease-inhibitor;-Reference-proteome;Secreted;-Serine-protease-inhibitor;-Signal;-Thioester-bond. | Intracellular | Atlas | chr12 | 9248269-9248296;9251202-9251203;M1;9251204-9251262 | 1 | 9 | 1 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 203 | Unknown | 4.55754565511 |
1077.83034073,5807.84483542 |
0 |
| 929 | mutation | K.GEESYCICGS:ER.Q | N | S | 857 | 10 | 1 | PZP | P20742 | Alternative-splicing;-Bait-region;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Secreted;Serine-protease-inhibitor;-Signal;-Thioester-bond. | Intracellular | Atlas | chr12 | 9316762-9316772;M1;9316773-9316804 | 2 | 3 | 9 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs3213831). | 12 | 5 | 7 | Unknown | 1.72235008863 |
3726.20660157,5807.84483542 |
0.000000 |
| 931 | mutation | K.TLHQGMA:EVYNFDFITMKPILK.L | P | A | 534 | 7 | 1 | PLBD1 | Q6P4A8 | Complete-proteome;-Disulfide-bond;-Glycoprotein;-Hydrolase;Lipid-degradation;-Lipid-metabolism;-Lysosome;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr12 | 14656717-14656767;M1;14656768-14656789 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs1600). | 1 | 48 | 4944 | Unknown | 0.73438045523 |
4923.79120427,5807.84483542 |
1.616750 |
| 932 | mutation | K.FRPLQLETINI:TMAGK.E | V | I | 102 | 11 | 1 | RECQL | F8WD97 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WD97,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 21643202-21643222;M1;21643223-21643256 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 2 | 55 | Unknown | 3.72671198768 |
1664.20909313,5807.84483542 |
0.000000 |
| 932 | mutation | K.FRPLQLETINI:TMAGK.E | V | I | 102 | 11 | 1 | RECQL | P46063 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;Direct-protein-sequencing;-DNA-binding;-Helicase;-Hydrolase;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr12 | 21643202-21643222;M1;21643223-21643256 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs1065751). | 12 | 2 | 55 | Unknown | 3.72671198768 |
1664.20909313,5807.84483542 |
0.000000 |
| 932 | mutation | K.FRPLQLETINI:TMAGK.E | V | I | 102 | 11 | 1 | RECQL | F8WA66 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WA66,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 21643202-21643222;M1;21643223-21643256 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 2 | 55 | Unknown | 3.72671198768 |
1664.20909313,5807.84483542 |
0.000000 |
| 932 | mutation | K.FRPLQLETINI:TMAGK.E | V | I | 102 | 11 | 1 | RECQL | F5H2L2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H2L2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 21643202-21643222;M1;21643223-21643256 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 2 | 55 | Unknown | 3.72671198768 |
1664.20909313,5807.84483542 |
0.000000 |
| 933 | mutation | R.ATLP:VFDKEELLECIQQLVR:.L | K | R | 49 | 20 | 1 | BCAT1 | A0A087WYF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WYF2,Pyridoxal-phosphate-{ECO:0000256|RuleBase:RU004516};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 25031532-25031536;M1;25031537-25031583;25034234-25034249 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 4.3361669783 |
1210.22099759,5807.84483542 |
0 |
| 933 | mutation | R.ATLP:VFDKEELLECIQQLVR:.L | K | R | 146 | 20 | 1 | BCAT1 | P54687 | 3D-structure;-Acetylation;-Alternative-splicing;Amino-acid-biosynthesis;-Aminotransferase;Branched-chain-amino-acid-biosynthesis;-Complete-proteome;-Cytoplasm;Polymorphism;-Pyridoxal-phosphate;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr12 | 25031532-25031536;M1;25031537-25031583;25034234-25034249 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 4.3361669783 |
1210.22099759,5807.84483542 |
0 |
| 933 | mutation | R.ATLP:VFDKEELLECIQQLVR:.L | K | R | 122 | 20 | 1 | BCAT1 | F5H2F2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H2F2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 25031532-25031536;M1;25031537-25031583;25034234-25034249 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 4.3361669783 |
1210.22099759,5807.84483542 |
0 |
| 934 | mutation | K.:LNATEEMLQQ:ELLSR.T | V | L | 148 | 1 | 1 | PPFIBP1 | A0A0A0MTP2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTP2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 27800742-27800745;M1;27800746-27800775;27802942-27802960 | 1 | 4 | 25 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 67 | 4986 | Unknown | 2.61073900926 |
2747.5110778,5807.84483542 |
2.125857 |
| 934 | mutation | K.:LNATEEMLQQ:ELLSR.T | V | L | 148 | 1 | 1 | PPFIBP1 | Q86W92 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr12 | 27800742-27800745;M1;27800746-27800775;27802942-27802960 | 1 | 4 | 25 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs2194816). | 1 | 67 | 4986 | Unknown | 2.61073900926 |
2747.5110778,5807.84483542 |
2.125857 |
| 935 | mutation | L.QEAR:EAYLVGLLEDTNLCAIHAK.R | S | R | 96 | 4 | 1 | H3F3C | Q6NXT2 | 3D-structure;-Acetylation;-Chromosome;-Citrullination;Complete-proteome;-DNA-binding;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr12 | 31944752-31944814;M1;31944815-31944827 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 2 | Unknown | 1.97475076672 |
2893.42841951,5807.84483542 |
0.000000 |
| 936 | mutation | R.TVLGQQILGQLN:SSSLALPSEAK.L | D | N | 26 | 12 | 1 | PKP2 | B8QGS9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B8QGS9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 33049551-33049589;M1;33049590-33049626 | 1 | 1 | 13 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 42 | 2 | 74 | Unknown | 3.67246359028 |
1664.19127577,5807.84483542 |
0.000000 |
| 936 | mutation | R.TVLGQQILGQLN:SSSLALPSEAK.L | D | N | 26 | 12 | 1 | PKP2 | Q99959 | 3D-structure;-Alternative-splicing;-Cardiomyopathy;-Cell-adhesion;Cell-junction;-Complete-proteome;-Disease-mutation;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr12 | 33049551-33049589;M1;33049590-33049626 | 1 | 1 | 13 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(associatedwithincreased | 42 | 2 | 74 | Unknown | 3.67246359028 |
1664.19127577,5807.84483542 |
0.000000 |
| 937 | mutation | R.FPGPEPEPVG:THEMEEELAEAVALLSQR.G | R | G | 151 | 10 | 1 | RAPGEF3 | F8VRX1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:F8VRX1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 48144865-48144924;M1;48144925-48144955 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 3 | 66 | 6396 | Unknown | -1.85152267827 |
7809.64550824,5807.84483542 |
0.000000 |
| 937 | mutation | R.FPGPEPEPVG:THEMEEELAEAVALLSQR.G | R | G | 151 | 10 | 1 | RAPGEF3 | F8W0N0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F8W0N0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 48144865-48144924;M1;48144925-48144955 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 3 | 66 | 6396 | Unknown | -1.85152267827 |
7809.64550824,5807.84483542 |
0.000000 |
| 937 | mutation | R.FPGPEPEPVG:THEMEEELAEAVALLSQR.G | R | G | 193 | 10 | 1 | RAPGEF3 | O95398 | Alternative-splicing;-Angiogenesis;-cAMP;-cAMP-binding;Complete-proteome;-Guanine-nucleotide-releasing-factor;-Membrane;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr12 | 48144865-48144924;M1;48144925-48144955 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs2016123). | 3 | 66 | 6396 | Unknown | -1.85152267827 |
7809.64550824,5807.84483542 |
0.000000 |
| 938 | mutation | G.ALNVE:LTEFQTNLVPYPR.I | D | E | 251 | 5 | 1 | TUBA1B | P68363 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-GTP-binding;Isopeptide-bond;-Methylation;-Microtubule;-Nitration;Nucleotide-binding;-Phosphoprotein;-Reference-proteome; | Intracellular | Atlas | chr12 | 49522301-49522343;M1;49522344-49522361 | 1 | 11 | 20 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.10951506244 |
2168.47359342,5807.84483542 |
0.000000 |
| 938 | mutation | G.ALNVE:LTEFQTNLVPYPR.I | D | E | 211 | 5 | 1 | TUBA1B | F8VVB9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F8VVB9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 49522301-49522343;M1;49522344-49522361 | 1 | 11 | 20 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.10951506244 |
2168.47359342,5807.84483542 |
0.000000 |
| 939 | mutation | -.AYHEQLSVAEITNACFEPAD:QMVK.C | N | D | 300 | 19 | 1 | TUBA1A | Q71U36 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;GTP-binding;-Isopeptide-bond;-Lissencephaly;-Microtubule;-Nitration;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr12 | 49579233-49579250;M1;49579251-49579308 | 2 | 7 | 278 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 122 | 2 | 305 | Unknown | -0.333068634589 |
6171.46034952,5807.84483542 |
0.000000 |
| 940 | mutation | R.ELFSNL:PEFAGPSGK.L | Q | P | 63 | 7 | 1 | METTL7A | F8VQX6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VQX6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr12 | 51318986-51319008;M1;51319009-51319037 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 180 | 145 | -35 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Intra-Cellular-Peptide | 3.55191675437 |
1763.61922967,5807.84483542 |
0.000000 |
| 940 | mutation | R.ELFSNL:PEFAGPSGK.L | Q | P | 63 | 7 | 1 | METTL7A | H0YI09 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YI09,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr12 | 51318986-51319008;M1;51319009-51319037 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 180 | 145 | -35 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Intra-Cellular-Peptide | 3.55191675437 |
1763.61922967,5807.84483542 |
0.000000 |
| 940 | mutation | R.ELFSNL:PEFAGPSGK.L | Q | P | 63 | 7 | 1 | METTL7A | Q9H8H3 | Complete-proteome;-Endoplasmic-reticulum;-Lipid-droplet;-Membrane;Methyltransferase;-Polymorphism;-Reference-proteome;-Signal; | Intracellular | Atlas | chr12 | 51318986-51319008;M1;51319009-51319037 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 180 | 145 | -35 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Unknown | 3.55191675437 |
1763.61922967,5807.84483542 |
0.000000 |
| 941 | mutation | R.AGGSYGFGGAR:.S | G | R | 97 | 11 | 1 | KRT6B | P04259 | Acetylation;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Ectodermal-dysplasia;Intermediate-filament;-Keratin;-Palmoplantar-keratoderma;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr12 | 52845568-52845573;M1;52845574-52845607 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 64 | Unknown | 0.0189024415725 |
5615.52868032,5807.84483542 |
0.000000 |
| 942 | mutation | R.NVQDV:VEDFK.N | L | V | 226 | 5 | 1 | KRT79 | Q5XKE5 | Coiled-coil;-Complete-proteome;-Intermediate-filament;-Keratin;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr12 | 53225191-53225211;M1;53225212-53225227 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 1 | 1 | Unknown | 1.93894441389 |
3553.48316573,5807.84483542 |
0.000000 |
| 943 | mutation | R.ASLEAAIADAEQH:GELAIK.D | R | H | 341 | 13 | 1 | KRT8 | P05787 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;Host-virus-interaction;-Intermediate-filament;-Isopeptide-bond;Keratin;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr12 | 53292620-53292642;M1;53292643-53292683 | 3 | 3 | 135 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 66 | 2 | 499 | Unknown | 6.88201516219 |
525.792371279,5807.84483542 |
0.000000 |
| 944 | mutation | -.LSPLVLEVDPD:IQAVR.T | N | D | 83 | 10 | 1 | KRT8 | P05787 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;Host-virus-interaction;-Intermediate-filament;-Isopeptide-bond;Keratin;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr12 | 53298498-53298518;M1;53298519-53298549 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 7499 | Unknown | 6.88201516219 |
525.792371279,5807.84483542 |
0.000000 |
| 944 | mutation | -.LSPLVLEVDPD:IQAVR.T | N | D | 161 | 10 | 1 | KRT8 | F8VQY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VQY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53298498-53298518;M1;53298519-53298549 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 7499 | Unknown | 6.88201516219 |
525.792371279,5807.84483542 |
0.000000 |
| 944 | mutation | -.LSPLVLEVDPD:IQAVR.T | N | D | 123 | 10 | 1 | KRT8 | F8W1U3 | Coiled-coil-{ECO:0000256|SAAS:SAAS00575538,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00575532};Proteomics-identification-{ECO:0000213|EPD:F8W1U3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53298498-53298518;M1;53298519-53298549 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 7499 | Unknown | 6.88201516219 |
525.792371279,5807.84483542 |
0.000000 |
| 944 | mutation | -.LSPLVLEVDPD:IQAVR.T | N | D | 83 | 10 | 1 | KRT8 | F8VUG2 | Coiled-coil-{ECO:0000256|SAAS:SAAS00575538,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00575532};Proteomics-identification-{ECO:0000213|EPD:F8VUG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53298498-53298518;M1;53298519-53298549 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 7499 | Unknown | 6.88201516219 |
525.792371279,5807.84483542 |
0.000000 |
| 945 | mutation | K.GLQAQIA:TSGLTVEVDAPK.S | S | T | 230 | 8 | 1 | KRT18 | F8VZY9 | Coiled-coil-{ECO:0000256|SAAS:SAAS00432071,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|RuleBase:RU000685,Proteomics-identification-{ECO:0000213|EPD:F8VZY9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 53345270-53345295;M1;53345296-53345333 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 1 | 250 | Unknown | 6.84442102148 |
532.727168159,5807.84483542 |
0.000000 |
| 945 | mutation | K.GLQAQIA:TSGLTVEVDAPK.S | S | T | 230 | 8 | 1 | KRT18 | P05783 | Acetylation;-Cell-cycle;-Coiled-coil;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;Host-virus-interaction;-Intermediate-filament;-Isopeptide-bond;Keratin;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr12 | 53345270-53345295;M1;53345296-53345333 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs58472472). | 9 | 1 | 250 | Unknown | 6.84442102148 |
532.727168159,5807.84483542 |
0.000000 |
| 946 | mutation | K.ICQSNLQLVH:AR.F | R | H | 645 | 10 | 1 | ITGA7 | J3KNV4 | Cell-adhesion-{ECO:0000256|RuleBase:RU003762,Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNV4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU003762, | Membrane-Bound | Atlas | chr12 | 56089346-56089356;M1;56089357-56089388 | 1 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 10 | 58 | 2267 | Targetable-Peptide | -1.27878162483 |
7204.8937341,5807.84483542 |
2.024674 |
| 946 | mutation | K.ICQSNLQLVH:AR.F | R | H | 71 | 10 | 1 | ITGA7 | H0YJ26 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H0YJ26};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 56089346-56089356;M1;56089357-56089388 | 1 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 10 | 58 | 2267 | Unknown | -1.27878162483 |
7204.8937341,5807.84483542 |
2.024674 |
| 946 | mutation | K.ICQSNLQLVH:AR.F | R | H | 695 | 10 | 1 | ITGA7 | Q13683 | ADP-ribosylation;-Alternative-splicing;-Calcium;-Cell-adhesion;Cell-shape;-Cleavage-on-pair-of-basic-residues;-Complete-proteome;Congenital-muscular-dystrophy;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Integrin;-Membrane;-Metal-binding;Polymorphism;-Receptor;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 56089346-56089356;M1;56089357-56089388 | 1 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1800974). | 10 | 58 | 2267 | Targetable | -1.27878162483 |
7204.8937341,5807.84483542 |
2.024674 |
| 947 | mutation | K.GFQH:ILAG:EYDHLPEQAFYMVGPIEEAVAK.A | Q | H | 493 | 4 | 1 | ATP5B | P06576 | Acetylation;-ATP-synthesis;-ATP-binding;-CF(1);-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Hydrogen-ion-transport;Hydrolase;-Ion-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr12 | 57032136-57032207;57032889-57032899;M1;57032900-57032914 | 1 | 9 | 5 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 948 | mutation | P.LDSTSH:IMDPNIVGSEHYDVAR.G | R | H | 343 | 6 | 1 | ATP5B | H0YH81 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YH81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 57033781-57033833;M1;57033834-57033853 | 3 | 7 | 13 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0.000000 |
| 948 | mutation | P.LDSTSH:IMDPNIVGSEHYDVAR.G | R | H | 406 | 6 | 1 | ATP5B | P06576 | Acetylation;-ATP-synthesis;-ATP-binding;-CF(1);-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Hydrogen-ion-transport;Hydrolase;-Ion-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr12 | 57033781-57033833;M1;57033834-57033853 | 3 | 7 | 13 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0.000000 |
| 949 | mutation | R.EGNDLYHEMIESGVIS:LK.D | N | S | 50 | 16 | 1 | ATP5B | H0YI37 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YI37,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 57037198-57037208;M1;57037209-57037258 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 949 | mutation | R.EGNDLYHEMIESGVIS:LK.D | N | S | 158 | 16 | 1 | ATP5B | F8W0P7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W0P7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 57037198-57037208;M1;57037209-57037258 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 949 | mutation | R.EGNDLYHEMIESGVIS:LK.D | N | S | 194 | 16 | 1 | ATP5B | H0YH81 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YH81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 57037198-57037208;M1;57037209-57037258 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 949 | mutation | R.EGNDLYHEMIESGVIS:LK.D | N | S | 196 | 16 | 1 | ATP5B | F8W079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W079,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 57037198-57037208;M1;57037209-57037258 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 949 | mutation | R.EGNDLYHEMIESGVIS:LK.D | N | S | 257 | 16 | 1 | ATP5B | P06576 | Acetylation;-ATP-synthesis;-ATP-binding;-CF(1);-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Hydrogen-ion-transport;Hydrolase;-Ion-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr12 | 57037198-57037208;M1;57037209-57037258 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.63946310605 |
557.421607345,5807.84483542 |
0 |
| 950 | mutation | R.AVAALLTI:SEAEK.S | P | S | 727 | 9 | 1 | CAND1 | A0A0C4DGH5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGH5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 67706448-67706475;M1;67706476-67706493 | 1 | 6 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 134 | Unknown | 4.42933506977 |
1170.89664754,5807.84483542 |
0.000000 |
| 950 | mutation | R.AVAALLTI:SEAEK.S | P | S | 1187 | 9 | 1 | CAND1 | Q86VP6 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr12 | 67706448-67706475;M1;67706476-67706493 | 1 | 6 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 134 | Unknown | 4.42933506977 |
1170.89664754,5807.84483542 |
0.000000 |
| 951 | mutation | R.TVYQ:AEEVQCDGR.S | H | Q | 19 | 4 | 1 | CSRP2 | F8VQR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};LIM-domain-{ECO:0000256|RuleBase:RU000350};Proteomics-identification-{ECO:0000213|EPD:F8VQR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 77259953-77259983;M1;77259984-77259998 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 81 | Unknown | 3.21200260049 |
2049.33111051,5807.84483542 |
5.321928 |
| 951 | mutation | R.TVYQ:AEEVQCDGR.S | H | Q | 19 | 4 | 1 | CSRP2 | F8VW96 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};LIM-domain-{ECO:0000256|RuleBase:RU000350};Proteomics-identification-{ECO:0000213|EPD:F8VW96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 77259953-77259983;M1;77259984-77259998 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 81 | Unknown | 3.21200260049 |
2049.33111051,5807.84483542 |
5.321928 |
| 951 | mutation | R.TVYQ:AEEVQCDGR.S | H | Q | 19 | 4 | 1 | CSRP2 | Q16527 | Acetylation;-Complete-proteome;-Developmental-protein;Differentiation;-LIM-domain;-Metal-binding;-Nucleus;Reference-proteome;-Repeat;-Zinc. | Intracellular | Atlas | chr12 | 77259953-77259983;M1;77259984-77259998 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 81 | Unknown | 3.21200260049 |
2049.33111051,5807.84483542 |
5.321928 |
| 952 | mutation | K.ITTGSSSAA:TQSS:TSNR.L | G | A | 604 | 9 | 2 | PPP1R12A | O14974 | 3D-structure;-Alternative-splicing;-ANK-repeat;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Hydroxylation;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr12 | 80199532-80199548;80199945-80199957;M1;80199958-80199986 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 59 | Unknown | 2.82601577218 |
2534.75150569,5807.84483542 |
0.000000 |
| 952 | mutation | K.ITTGSSSAA:TQSS:TSNR.L | G | A | 196 | 9 | 2 | PPP1R12A | H0YHI8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YHI8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 80199532-80199548;80199945-80199957;M1;80199958-80199986 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 59 | Unknown | 2.82601577218 |
2534.75150569,5807.84483542 |
0.000000 |
| 953 | mutation | K.SLEYLDLSFNQIARP:PSGLPVSLLTLYLDNNK.I | L | P | 199 | 15 | 1 | LUM | P51884 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Leucine-rich-repeat;Phosphoprotein;-Polymorphism;-Proteoglycan;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr12 | 91502105-91502160;M1;91502161-91502207 | 1 | 10 | 2 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | L->P(foundinpatientswith | 3 | 2 | 203 | Unknown | 6.22508600923 |
596.84533268,5807.84483542 |
0 |
| 954 | mutation | K.LQQQLTQAAQELAS:EK.E | A | S | 1009 | 14 | 1 | EEA1 | Q15075 | 3D-structure;-Coiled-coil;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Endosome;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr12 | 93181756-93181767;M1;93181768-93181810 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 20 | 6 | 139 | Unknown | 3.00319489056 |
2356.91064265,5807.84483542 |
1.000000 |
| 955 | mutation | K.GSPMEISLPIT:LSK:.N | A | T | 94 | 11 | 1 | LTA4H | P09960 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Hydrolase;Leukotriene-biosynthesis;-Metal-binding;-Metalloprotease;Phosphoprotein;-Polymorphism;-Protease;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr12 | 96421338-96421342;96422832-96422842;M1;96422843-96422876 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 2 | 337 | Unknown | 4.61373541406 |
1076.71398528,5807.84483542 |
0.000000 |
| 956 | mutation | R.IDGPVISESTPIAETIM:PSSNESL:VVNR.V | A | P | 247 | 18 | 1 | TMPO | G5E972 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G5E972,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr12 | 98938240-98938294;M1;98938295-98938315;98938728-98938743 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 1 | 2 | 396 | Intra-Cellular-Peptide | 4.51560722151 |
1118.44123517,5807.84483542 |
0.000000 |
| 956 | mutation | R.IDGPVISESTPIAETIM:PSSNESL:VVNR.V | A | P | 287 | 18 | 1 | TMPO | P42167 | Acetylation;-Alternative-splicing;-Citrullination;-Complete-proteome;Cytoplasm;-DNA-binding;-Membrane;-Nucleus;-Pharmaceutical;Phosphoprotein;-Polymorphism;-Reference-proteome;-Signal-anchor;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 98938240-98938294;M1;98938295-98938315;98938728-98938743 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | A->P(indbSNP:rs7133258). | 1 | 2 | 396 | Lumenal | 4.51560722151 |
1118.44123517,5807.84483542 |
0.000000 |
| 957 | mutation | R.KLG:ITPEGQSYLDQFR.Q | V | I | 902 | 4 | 1 | KIAA1033 | A0A087X256 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X256,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 105546159-105546171;M1;105546172-105546213 | 4 | 0 | 26 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 66 | 2036 | Unknown | 1.38377569387 |
4322.03956867,5807.84483542 |
2.269341 |
| 957 | mutation | R.KLG:ITPEGQSYLDQFR.Q | V | I | 901 | 4 | 1 | KIAA1033 | Q2M389 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Disease-mutation;-Endosome;-Mental-retardation;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr12 | 105546159-105546171;M1;105546172-105546213 | 4 | 0 | 26 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs1663564). | 9 | 66 | 2036 | Unknown | 1.38377569387 |
4322.03956867,5807.84483542 |
2.269341 |
| 958 | mutation | R.TAVDSLVAYL:VK.I | S | L | 564 | 10 | 1 | CKAP4 | Q07065 | Acetylation;-Cell-membrane;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Endoplasmic-reticulum;Lipoprotein;-Membrane;-Palmitate;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 106632909-106632919;M1;106632920-106632951 | 1 | 22 | 1 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 232 | Targetable | 5.05633104154 |
875.164023741,5807.84483542 |
0 |
| 959 | mutation | K.LRPV:FEACGEVVQIRPIFSNR.G | L | V | 725 | 4 | 1 | SART3 | Q15020 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;mRNA-processing;-mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding. | Intracellular | Atlas | chr12 | 108920016-108920072;M1;108920073-108920085 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 181 | Unknown | 3.06551928981 |
2301.60816451,5807.84483542 |
0 |
| 959 | mutation | K.LRPV:FEACGEVVQIRPIFSNR.G | L | V | 743 | 4 | 1 | SART3 | F8VV04 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VV04,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 108920016-108920072;M1;108920073-108920085 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 181 | Unknown | 3.06551928981 |
2301.60816451,5807.84483542 |
0 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | F5H368 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H368,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | Q03426 | 3D-structure;-ATP-binding;-Cataract;-Cholesterol-biosynthesis;Cholesterol-metabolism;-Complete-proteome;-Cytoplasm;Disease-mutation;-Kinase;-Lipid-biosynthesis;-Lipid-metabolism;Nucleotide-binding;-Polymorphism;-Reference-proteome;Steroid-biosynthesis;-Steroid-metabolism;-Sterol-biosynthesis;Sterol-metabolism;-Transferase. | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs7957619). | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | F5GXC0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GXC0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | F5H092 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H092,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | F5H163 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H163,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 960 | mutation | K.VDL:NLPNIGIK.R | S | N | 52 | 4 | 1 | MVK | F5H8H2 | Cholesterol-biosynthesis-{ECO:0000256|RuleBase:RU363087};Cholesterol-metabolism-{ECO:0000256|RuleBase:RU363087};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Kinase-{ECO:0000256|RuleBase:RU363087,-ECO:0000313|EMBL:ALQ33664.1};Lipid-biosynthesis-{ECO:0000256|RuleBase:RU363087};Lipid-metabolism-{ECO:0000256|RuleBase:RU363087};Proteomics-identification-{ECO:0000213|EPD:F5H8H2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Steroid-biosynthesis-{ECO:0000256|RuleBase:RU363087};Steroid-metabolism-{ECO:0000256|RuleBase:RU363087};Sterol-biosynthesis-{ECO:0000256|RuleBase:RU363087};Sterol-metabolism-{ECO:0000256|RuleBase:RU363087}; | Intracellular | Atlas | chr12 | 110013865-110013878;M1;110013879-110013904 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 12 | 736 | Unknown | 0.801501982723 |
4837.14395985,5807.84483542 |
1.953445 |
| 961 | mutation | R.GLAGH:FLDYLTR.R | R | H | 321 | 5 | 1 | RASAL1 | O95294 | Alternative-splicing;-Complete-proteome;-Differentiation;GTPase-activation;-Metal-binding;-Polymorphism;-Reference-proteome;Repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr12 | 113553455-113553480;M1;113553481-113553497 | 2 | 0 | 53 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1284879). | 16 | 61 | 4099 | Unknown | 0.682197444828 |
4989.74982985,5807.84483542 |
1.962420 |
| 962 | mutation | R.LQ:AEGAEVQLTGK:.V | G | A | 108 | 3 | 1 | SDSL | Q96GA7 | 3D-structure;-Acetylation;-Complete-proteome;-Lyase;Pyridoxal-phosphate;-Reference-proteome. | Intracellular | Atlas | chr12 | 113867062-113867072;M1;113867073-113867104;113871938-113871941 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 8 | 571 | Unknown | 1.5816435941 |
3878.01011195,5807.84483542 |
2.869110 |
| 962 | mutation | R.LQ:AEGAEVQLTGK:.V | G | A | 50 | 3 | 1 | SDSL | F8VYZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VYZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 113867062-113867072;M1;113867073-113867104;113871938-113871941 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 8 | 571 | Unknown | 1.5816435941 |
3878.01011195,5807.84483542 |
2.869110 |
| 963 | mutation | R.VLLPEGGT:TAIVEFLEPLEAR.K | I | T | 623 | 8 | 1 | RBM19 | Q9Y4C8 | 3D-structure;-Chromosome;-Complete-proteome;-Cytoplasm;Developmental-protein;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding. | Intracellular | Atlas | chr12 | 114377791-114377834;M1;114377835-114377860 | 1 | 1 | 6 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs2290788). | 1 | 15 | 546 | Unknown | 0.629706529833 |
5111.30053162,5807.84483542 |
1.500000 |
| 965 | mutation | K.NLPAGTLAAE:LQETFGHFGSLGR.V | Q | E | 602 | 10 | 1 | RBM19 | Q9Y4C8 | 3D-structure;-Chromosome;-Complete-proteome;-Cytoplasm;Developmental-protein;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding. | Intracellular | Atlas | chr12 | 114377854-114377898;M1;114377899-114377929 | 2 | 1 | 6 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | Q->E(indbSNP:rs7299217). | 24 | 67 | 3164 | Unknown | 0.629706529833 |
5111.30053162,5807.84483542 |
2.067484 |
| 966 | mutation | R.GEQASGDPALAQ:GLLEGAGRPPAAR.A | R | G | 58 | 13 | 1 | FBXW8 | Q8N3Y1 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Golgi-apparatus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation-pathway;-WD-repeat. | Intracellular | Atlas | chr12 | 117348974-117349013;M1;117349014-117349055 | 2 | 1 | 13 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 3 | 54 | 673 | Unknown | -1.38982362982 |
7322.43300726,5807.84483542 |
0.000000 |
| 969 | mutation | R.EKDLEDLFF:K.Y | Y | F | 35 | 9 | 1 | SRSF9 | Q13242 | Complete-proteome;-mRNA-processing;-mRNA-splicing;-Nucleus;Phosphoprotein;-Reference-proteome;-Repeat;-Repressor;-RNA-binding. | Intracellular | Atlas | chr12 | 120907301-120907308;M1;120907309-120907337 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 3 | 711 | Unknown | 4.26099791717 |
1275.52385038,5807.84483542 |
0.000000 |
| 969 | mutation | R.EKDLEDLFF:K.Y | Y | F | 23 | 9 | 1 | SRSF9 | H0YIB4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YIB4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 120907301-120907308;M1;120907309-120907337 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 3 | 711 | Unknown | 4.26099791717 |
1275.52385038,5807.84483542 |
0.000000 |
| 969 | mutation | R.EKDLEDLFF:K.Y | Y | F | 35 | 9 | 1 | SRSF9 | S4R3G0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3G0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 120907301-120907308;M1;120907309-120907337 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 3 | 711 | Unknown | 4.26099791717 |
1275.52385038,5807.84483542 |
0.000000 |
| 970 | mutation | R.AQQNLSWEEIT:K.E | A | T | 71 | 11 | 1 | COQ5 | F8VVX6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VVX6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 120954481-120954489;M1;120954490-120954523 | 1 | 3 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 20 | 1968 | Unknown | 2.79214226874 |
2537.02114978,5807.84483542 |
3.210055 |
| 970 | mutation | R.AQQNLSWEEIT:K.E | A | T | 102 | 11 | 1 | COQ5 | F8VVW7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VVW7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 120954481-120954489;M1;120954490-120954523 | 1 | 3 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 20 | 1968 | Unknown | 2.79214226874 |
2537.02114978,5807.84483542 |
3.210055 |
| 970 | mutation | R.AQQNLSWEEIT:K.E | A | T | 71 | 11 | 1 | COQ5 | F8VP53 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VP53,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 120954481-120954489;M1;120954490-120954523 | 1 | 3 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 20 | 1968 | Unknown | 2.79214226874 |
2537.02114978,5807.84483542 |
3.210055 |
| 970 | mutation | R.AQQNLSWEEIT:K.E | A | T | 152 | 11 | 1 | COQ5 | Q5HYK3 | Alternative-splicing;-Complete-proteome;-Membrane;-Methyltransferase;Mitochondrion;-Mitochondrion-inner-membrane;-Polymorphism;Reference-proteome;-S-adenosyl-L-methionine;-Transferase;Transit-peptide;-Ubiquinone-biosynthesis. | Intracellular | Atlas | chr12 | 120954481-120954489;M1;120954490-120954523 | 1 | 3 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs3742049). | 9 | 20 | 1968 | Unknown | 2.79214226874 |
2537.02114978,5807.84483542 |
3.210055 |
| 971 | mutation | R.LPLALHDTPPIPGQPEEI:R.L | Q | R | 460 | 19 | 1 | P2RX7 | Q99572 | ADP-ribosylation;-Alternative-splicing;-Cell-membrane;Complete-proteome;-Disulfide-bond;-Glycoprotein;-Ion-channel;Ion-transport;-Ligand-gated-ion-channel;-Lipoprotein;-Membrane;Palmitate;-Phosphoprotein;-Polymorphism;-Receptor;-Reference-proteome;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr12 | 121622137-121622195;M1;121622196-121622200 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs2230912). | 1 | 11 | 152 | Intra-Cellular-Peptide | -1.69297175494 |
7669.86614819,5807.84483542 |
0.000000 |
| 972 | mutation | R.DRPLEADGQEVPLDS:SGSQAR.P | T | S | 85 | 15 | 1 | CAMKK2 | F5H4I7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H4I7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 121712053-121712076;M1;121712077-121712122 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 9 | 55 | 4249 | Unknown | -0.533201499518 |
6417.8462388,5807.84483542 |
2.072067 |
| 972 | mutation | R.DRPLEADGQEVPLDS:SGSQAR.P | T | S | 85 | 15 | 1 | CAMKK2 | Q96RR4 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Calmodulin-binding;-Cell-projection;-Complete-proteome;-Cytoplasm;Kinase;-Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Serine/threonine-protein-kinase;-Transferase. | Intracellular | Atlas | chr12 | 121712053-121712076;M1;121712077-121712122 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs3817190). | 9 | 55 | 4249 | Unknown | -0.533201499518 |
6417.8462388,5807.84483542 |
2.072067 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5H6Q2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H6Q2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | P0CG48 | 3D-structure;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5H2Z3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H2Z3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5GXK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GXK7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5H747 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H747,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | Q96C32 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q96C32,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | Q5PY61 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5PY61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5H265 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H265,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5H388 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H388,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5GZ39 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GZ39};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 973 | mutation | F.VKTM:TGKTITLEVEPSDTIENVK.- | L | M | 8 | 4 | 1 | UBC | F5GYU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GYU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125396640-125396699;M1;125396700-125396712 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 210 | Unknown | - |
- |
0.000000 |
| 974 | mutation | R.LKLPILSEEQVIMEAVAEHPV:VIVCGETGSGK.T | I | V | 270 | 21 | 1 | DHX37 | Q8IY37 | ATP-binding;-Complete-proteome;-Helicase;-Hydrolase;Nucleotide-binding;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr12 | 125461928-125461966;M1;125461967-125462030 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 5 | Unknown | -0.759013938438 |
6723.43764464,5807.84483542 |
0 |
| 974 | mutation | R.LKLPILSEEQVIMEAVAEHPV:VIVCGETGSGK.T | I | V | 57 | 21 | 1 | DHX37 | F5H3Y4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H3Y4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 125461928-125461966;M1;125461967-125462030 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 5 | Unknown | -0.759013938438 |
6723.43764464,5807.84483542 |
0 |
| 975 | mutation | K.SQLPDLSA:PHSYSPGR.N | G | A | 246 | 8 | 2 | ANKLE2 | F5H1D4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H1D4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr12 | 133303944-133303972;M1;133303973-133303998 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 5 | 963 | Unknown | 0.112395135912 |
5747.51792131,5807.84483542 |
1.528321 |
| 975 | mutation | K.SQLPDLSA:PHSYSPGR.N | G | A | 891 | 8 | 2 | ANKLE2 | Q86XL3 | Alternative-splicing;-ANK-repeat;-Cell-cycle;-Cell-division;Complete-proteome;-Disease-mutation;-Endoplasmic-reticulum;-Membrane;Mitosis;-Phosphoprotein;-Polymorphism;-Primary-microcephaly;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 133303944-133303972;M1;133303973-133303998 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 5 | 963 | Lumenal | 0.112395135912 |
5747.51792131,5807.84483542 |
1.528321 |
| 976 | mutation | R.LSSFYY:HEAGVTALSQDPQR.I | H | Y | 122 | 6 | 2 | ANKLE2 | Q86XL3 | Alternative-splicing;-ANK-repeat;-Cell-cycle;-Cell-division;Complete-proteome;-Disease-mutation;-Endoplasmic-reticulum;-Membrane;Mitosis;-Phosphoprotein;-Polymorphism;-Primary-microcephaly;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr12 | 133331489-133331536;M1;133331537-133331555 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | H->Y(indbSNP:rs1132375). | 20 | 35 | 5432 | Lumenal | 0.112395135912 |
5747.51792131,5807.84483542 |
0.000000 |
| 977 | mutation | R.TEEF:Q:GHAVNLLGNLPLK.C | H | Q | 167 | 5 | 1 | RIC8A | H0YEN0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YEN0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 210642-210659;M1;210660-210662;211198-211238 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 25 | 855 | Unknown | 2.51052181178 |
2874.5842638,5807.84483542 |
0.000000 |
| 977 | mutation | R.TEEF:Q:GHAVNLLGNLPLK.C | H | Q | 272 | 5 | 1 | RIC8A | Q9NPQ8 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Guanine-nucleotide-releasing-factor;-Membrane;-Phosphoprotein; | Intracellular | Atlas | chr11 | 210642-210659;M1;210660-210662;211198-211238 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 25 | 855 | Unknown | 2.51052181178 |
2874.5842638,5807.84483542 |
0.000000 |
| 978 | mutation | K.ELYPGNYKPNI:THYFLR.L | V | I | 208 | 11 | 1 | SIRT3 | E9PM75 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PM75,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 233043-233066;M1;233067-233100 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 19 | 1389 | Unknown | -0.0567208066132 |
5785.33800634,5807.84483542 |
0.000000 |
| 978 | mutation | K.ELYPGNYKPNI:THYFLR.L | V | I | 144 | 11 | 1 | SIRT3 | E9PN58 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PN58,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 233043-233066;M1;233067-233100 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 19 | 1389 | Unknown | -0.0567208066132 |
5785.33800634,5807.84483542 |
0.000000 |
| 978 | mutation | K.ELYPGNYKPNI:THYFLR.L | V | I | 66 | 11 | 1 | SIRT3 | E9PNA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PNA0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 233043-233066;M1;233067-233100 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 19 | 1389 | Unknown | -0.0567208066132 |
5785.33800634,5807.84483542 |
0.000000 |
| 978 | mutation | K.ELYPGNYKPNI:THYFLR.L | V | I | 208 | 11 | 1 | SIRT3 | Q9NTG7 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Hydrolase;Metal-binding;-Mitochondrion;-NAD;-Polymorphism;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr11 | 233043-233066;M1;233067-233100 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs11246020). | 6 | 19 | 1389 | Unknown | -0.0567208066132 |
5785.33800634,5807.84483542 |
0.000000 |
| 978 | mutation | K.ELYPGNYKPNI:THYFLR.L | V | I | 127 | 11 | 1 | SIRT3 | E9PK80 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PK80,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 233043-233066;M1;233067-233100 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 19 | 1389 | Unknown | -0.0567208066132 |
5785.33800634,5807.84483542 |
0.000000 |
| 979 | mutation | K.:ETIEDVEEMLNNLPGVT:LVHSR.F | S | L | 112 | 18 | 1 | PSMD13 | E9PL38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PL38,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 244758-244761;247276-247328;M1;247329-247345 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 3 | 750 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 979 | mutation | K.:ETIEDVEEMLNNLPGVT:LVHSR.F | S | L | 150 | 18 | 1 | PSMD13 | A0A087WUL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 244758-244761;247276-247328;M1;247329-247345 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 3 | 750 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 979 | mutation | K.:ETIEDVEEMLNNLPGVT:LVHSR.F | S | L | 150 | 18 | 1 | PSMD13 | Q9UNM6 | Acetylation;-Alternative-splicing;-Complete-proteome;-Polymorphism;Proteasome;-Reference-proteome. | Intracellular | Atlas | chr11 | 244758-244761;247276-247328;M1;247329-247345 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs28927679). | 1 | 3 | 750 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 979 | mutation | K.:ETIEDVEEMLNNLPGVT:LVHSR.F | S | L | 61 | 18 | 1 | PSMD13 | H0YD73 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YD73,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 244758-244761;247276-247328;M1;247329-247345 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 3 | 750 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 979 | mutation | K.:ETIEDVEEMLNNLPGVT:LVHSR.F | S | L | 150 | 18 | 1 | PSMD13 | J3KNQ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNQ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 244758-244761;247276-247328;M1;247329-247345 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 3 | 750 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 980 | mutation | K.YY:ETIGNHASYYK.D | Q | E | 126 | 3 | 1 | PSMD13 | E9PL38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PL38,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 247360-247369;M1;247370-247405 | 1 | 1 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 250 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 980 | mutation | K.YY:ETIGNHASYYK.D | Q | E | 164 | 3 | 1 | PSMD13 | A0A087WUL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 247360-247369;M1;247370-247405 | 1 | 1 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 250 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 980 | mutation | K.YY:ETIGNHASYYK.D | Q | E | 164 | 3 | 1 | PSMD13 | Q9UNM6 | Acetylation;-Alternative-splicing;-Complete-proteome;-Polymorphism;Proteasome;-Reference-proteome. | Intracellular | Atlas | chr11 | 247360-247369;M1;247370-247405 | 1 | 1 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 250 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 980 | mutation | K.YY:ETIGNHASYYK.D | Q | E | 75 | 3 | 1 | PSMD13 | H0YD73 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YD73,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 247360-247369;M1;247370-247405 | 1 | 1 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 250 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 980 | mutation | K.YY:ETIGNHASYYK.D | Q | E | 164 | 3 | 1 | PSMD13 | J3KNQ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNQ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 247360-247369;M1;247370-247405 | 1 | 1 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 250 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 981 | mutation | K.ITV:HE:VELLVMK.A | N | H | 305 | 4 | 1 | PSMD13 | A0A087WUL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 251608-251620;M1;251621-251626;251819-251843 | 2 | 3 | 3 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | - | 1 | 1 | 245 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 981 | mutation | K.ITV:HE:VELLVMK.A | N | H | 305 | 4 | 1 | PSMD13 | Q9UNM6 | Acetylation;-Alternative-splicing;-Complete-proteome;-Polymorphism;Proteasome;-Reference-proteome. | Intracellular | Atlas | chr11 | 251608-251620;M1;251621-251626;251819-251843 | 2 | 3 | 3 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | - | 1 | 1 | 245 | Unknown | 4.35139967039 |
1228.32564153,5807.84483542 |
0.000000 |
| 982 | mutation | K.ELTVSNNDINEAGVH:VLCQGLK.D | R | H | 188 | 15 | 1 | RNH1 | P13489 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Leucine-rich-repeat;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr11 | 499040-499065;M1;499066-499112 | 1 | 6 | 30 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 36 | 5 | 1233 | Unknown | 4.45357611478 |
1109.89037677,5807.84483542 |
0.000000 |
| 982 | mutation | K.ELTVSNNDINEAGVH:VLCQGLK.D | R | H | 188 | 15 | 1 | RNH1 | E9PIM9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PIM9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 499040-499065;M1;499066-499112 | 1 | 6 | 30 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 36 | 5 | 1233 | Unknown | 4.45357611478 |
1109.89037677,5807.84483542 |
0.000000 |
| 983 | mutation | R.YVASYLLAALGGNSS:SSAK.D | P | S | 18 | 16 | 1 | RPLP2 | P05387 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Phosphoprotein;-Reference-proteome;Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr11 | 810237-810285;M1;810286-810300 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 6.38444769968 |
583.632080958,5807.84483542 |
0.000000 |
| 985 | mutation | R.MVWDSQ:VSEHFFEYK.K | A | V | 338 | 7 | 1 | CHID1 | Q9BWS9 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Immunity;Innate-immunity;-Lysosome;-Polymorphism;-Reference-proteome;-Secreted; | Intracellular | Atlas | chr11 | 870162-870163;870418-870445;M1;870446-870468 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs6682). | 57 | 59 | 12238 | Unknown | 3.20931109189 |
2109.16713499,5807.84483542 |
0.000000 |
| 985 | mutation | R.MVWDSQ:VSEHFFEYK.K | A | V | 53 | 7 | 1 | CHID1 | H0YC89 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YC89,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 870162-870163;870418-870445;M1;870446-870468 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 57 | 59 | 12238 | Unknown | 3.20931109189 |
2109.16713499,5807.84483542 |
0.000000 |
| 985 | mutation | R.MVWDSQ:VSEHFFEYK.K | A | V | 14 | 7 | 1 | CHID1 | H0YDL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YDL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 870162-870163;870418-870445;M1;870446-870468 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 57 | 59 | 12238 | Unknown | 3.20931109189 |
2109.16713499,5807.84483542 |
0.000000 |
| 985 | mutation | R.MVWDSQ:VSEHFFEYK.K | A | V | 29 | 7 | 1 | CHID1 | H0YCC4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCC4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 870162-870163;870418-870445;M1;870446-870468 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 57 | 59 | 12238 | Unknown | 3.20931109189 |
2109.16713499,5807.84483542 |
0.000000 |
| 986 | mutation | K.TLCLSGFMGMDIPPPSGPLWILGDI:FIGR.Y | V | I | 165 | 25 | 2 | CTSD | H7C1V0 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C1V0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1774792-1774809;M1;1774810-1774885 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 246 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 986 | mutation | K.TLCLSGFMGMDIPPPSGPLWILGDI:FIGR.Y | V | I | 388 | 25 | 2 | CTSD | P07339 | 3D-structure;-Alzheimer-disease;-Aspartyl-protease;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Neurodegeneration;Neuronal-ceroid-lipofuscinosis;-Polymorphism;-Protease;Reference-proteome;-Secreted;-Signal;-Zymogen. | Intracellular | Atlas | chr11 | 1774792-1774809;M1;1774810-1774885 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 246 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0 |
| 987 | mutation | K.AYWQVHLDQ:VEVASR:.L | G | R | 282 | 15 | 2 | CTSD | P07339 | 3D-structure;-Alzheimer-disease;-Aspartyl-protease;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Neurodegeneration;Neuronal-ceroid-lipofuscinosis;-Polymorphism;-Protease;Reference-proteome;-Secreted;-Signal;-Zymogen. | Intracellular | Atlas | chr11 | 1775346-1775351;M1;1775352-1775368;1776135-1776164 | 1 | 3 | 7 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | G->R(indbSNP:rs147278302). | 21 | 20 | 1313 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0.000000 |
| 987 | mutation | K.AYWQVHLDQ:VEVASR:.L | G | R | 267 | 15 | 2 | CTSD | C9JH19 | Aspartyl-protease-{ECO:0000256|RuleBase:RU000454};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00534356};Proteomics-identification-{ECO:0000213|EPD:C9JH19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1775346-1775351;M1;1775352-1775368;1776135-1776164 | 1 | 3 | 7 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 21 | 20 | 1313 | Unknown | 5.67460484926 |
688.515827113,5807.84483542 |
0.000000 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 46 | 17 | 1 | LSP1 | C9JNQ1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JNQ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 46 | 17 | 1 | LSP1 | C9JKF7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JKF7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 91 | 17 | 1 | LSP1 | C9JU59 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JU59,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 99 | 17 | 1 | LSP1 | E7EMG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 46 | 17 | 1 | LSP1 | E9PBD8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PBD8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 108 | 17 | 1 | LSP1 | P33241 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Complete-proteome;-Direct-protein-sequencing;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | Q->L(indbSNP:rs11545725). | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 988 | mutation | R.QQHEGAQGALDSGEPP:LCR.S | Q | L | 46 | 17 | 1 | LSP1 | C9J9B9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J9B9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 1902740-1902792;M1;1902793-1902803 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 11 | 1607 | Unknown | 2.7668063988 |
2574.14680107,5807.84483542 |
2.669465 |
| 989 | mutation | F.VLEFHFEPNDYFTNSI:LTK.T | V | I | 220 | 16 | 1 | NAP1L4 | Q99733 | Acetylation;-Alternative-splicing;-Complete-proteome;-Nucleus;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr11 | 2981073-2981087;M1;2981088-2981136 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 250 | Unknown | 3.90335966012 |
1527.55038296,5807.84483542 |
0.000000 |
| 989 | mutation | F.VLEFHFEPNDYFTNSI:LTK.T | V | I | 76 | 16 | 1 | NAP1L4 | H0YCI4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCI4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 2981073-2981087;M1;2981088-2981136 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 250 | Unknown | 3.90335966012 |
1527.55038296,5807.84483542 |
0.000000 |
| 989 | mutation | F.VLEFHFEPNDYFTNSI:LTK.T | V | I | 232 | 16 | 1 | NAP1L4 | C9JZI7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JZI7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 2981073-2981087;M1;2981088-2981136 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 250 | Unknown | 3.90335966012 |
1527.55038296,5807.84483542 |
0.000000 |
| 989 | mutation | F.VLEFHFEPNDYFTNSI:LTK.T | V | I | 105 | 16 | 1 | NAP1L4 | E9PP22 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PP22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 2981073-2981087;M1;2981088-2981136 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 250 | Unknown | 3.90335966012 |
1527.55038296,5807.84483542 |
0.000000 |
| 990 | mutation | R.IQHS:VQLATEPLEK.A | A | S | 158 | 4 | 1 | CARS | P49589 | Acetylation;-Alternative-splicing;-Aminoacyl-tRNA-synthetase;ATP-binding;-Chromosomal-rearrangement;-Complete-proteome;-Cytoplasm;Ligase;-Metal-binding;-Nucleotide-binding;-Phosphoprotein;Protein-biosynthesis;-Proto-oncogene;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr11 | 3059324-3059359;M1;3059360-3059372 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 4 | 383 | Unknown | 2.87073817698 |
2490.94205961,5807.84483542 |
2.807355 |
| 990 | mutation | R.IQHS:VQLATEPLEK.A | A | S | 171 | 4 | 1 | CARS | B4DKY1 | Aminoacyl-tRNA-synthetase-{ECO:0000313|EMBL:BAG59343.1};Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B4DKY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 3059324-3059359;M1;3059360-3059372 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 4 | 383 | Unknown | 2.87073817698 |
2490.94205961,5807.84483542 |
2.807355 |
| 991 | mutation | R.L:TGSSVEMLQ:DVIDVMK.- | R | T | 210 | 2 | 2 | TRIM22 | C9JWC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JWC5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 5719742-5719749;M1;5719750-5719775;5727823-5727844 | 2 | 4 | 44 | 1 | 1 | 0 | -1 | 225 | 140 | -85 | -0.700000 | -0.400000 | - | 46 | 42 | 3377 | Unknown | 0.831129458529 |
4819.83350425,5807.84483542 |
2.156880 |
| 991 | mutation | R.L:TGSSVEMLQ:DVIDVMK.- | R | T | 242 | 2 | 2 | TRIM22 | Q8IYM9 | Alternative-splicing;-Antiviral-defense;-Coiled-coil;Complete-proteome;-Cytoplasm;-Host-virus-interaction;-Ligase;Metal-binding;-Nucleus;-Polymorphism;-Reference-proteome;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr11 | 5719742-5719749;M1;5719750-5719775;5727823-5727844 | 2 | 4 | 44 | 1 | 1 | 0 | -1 | 225 | 140 | -85 | -0.700000 | -0.400000 | R->T(indbSNP:rs1063303). | 46 | 42 | 3377 | Unknown | 0.831129458529 |
4819.83350425,5807.84483542 |
2.156880 |
| 992 | mutation | R.EADECI:VSEDK.T | E | V | 113 | 7 | 1 | OLFML1 | Q6UWY5 | Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr11 | 7509543-7509565;M1;7509566-7509582 | 2 | 4 | 28 | 1 | -1 | 0 | 1 | 190 | 155 | -35 | Hydrophobic;4.200000 | -1.500000 | E->V(indbSNP:rs12805648). | 3 | 15 | 429 | Unknown | 2.79650385158 |
2444.62571549,5807.84483542 |
2.479749 |
| 993 | mutation | R.THPDQFD:LWYTLDRPPIG:WK.Y | N | D | 209 | 7 | 1 | CYB5R2 | Q6BCY4 | Alternative-splicing;-Complete-proteome;-FAD;-Flavoprotein;Lipid-biosynthesis;-Lipid-metabolism;-NAD;-Oxidoreductase;Polymorphism;-Reference-proteome;-Steroid-biosynthesis;Steroid-metabolism;-Sterol-biosynthesis;-Sterol-metabolism. | Intracellular | Atlas | chr11 | 7686766-7686777;7687681-7687714;M1;7687715-7687736 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | N->D(indbSNP:rs12801394). | 11 | 61 | 6773 | Unknown | 2.58816532115 |
2635.61420432,5807.84483542 |
1.686482 |
| 994 | mutation | K.EQALQEAMEQLE:ELELER.K | Q | E | 505 | 13 | 1 | SWAP70 | Q9UH65 | 3D-structure;-Cell-membrane;-Cell-projection;-Coiled-coil;Complete-proteome;-Cytoplasm;-Cytoskeleton;-DNA-binding;-Membrane;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr11 | 9769522-9769561;M1;9769562-9769582 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | Q->E(indbSNP:rs415895). | 28 | 58 | 3576 | Unknown | 2.83200976355 |
2523.50726268,5807.84483542 |
1.916993 |
| 994 | mutation | K.EQALQEAMEQLE:ELELER.K | Q | E | 447 | 13 | 1 | SWAP70 | E7EMB1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMB1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 9769522-9769561;M1;9769562-9769582 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 28 | 58 | 3576 | Unknown | 2.83200976355 |
2523.50726268,5807.84483542 |
1.916993 |
| 996 | mutation | R.VYLQGLIDY:YLFGNSSTVLEDSK.S | C | Y | 89 | 9 | 1 | SAA4 | P35542 | Acute-phase;-Complete-proteome;-Direct-protein-sequencing;Glycoprotein;-HDL;-Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr11 | 18253129-18253175;M1;18253176-18253204 | 1 | 1 | 18 | 1 | 0 | 0 | 0 | 135 | 230 | 95 | -1.300000 | -2.300000 | C->Y(polymorphism;confirmedat | 54 | 43 | 322 | Unknown | 3.22228900315 |
2039.69735483,5807.84483542 |
0.000000 |
| 997 | mutation | R.LTGH:GAEDSLADQAANK.W | R | H | 89 | 4 | 1 | SAA2 | P0DJI9 | Acute-phase;-Alternative-splicing;-Amyloid;-Amyloidosis;Complete-proteome;-Direct-protein-sequencing;-HDL;-Polymorphism;Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr11 | 18266983-18267026;M1;18267027-18267040 | 2 | 0 | 55 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(inalleleSAA2.1; | 30 | 51 | 1819 | Unknown | 0.836597821829 |
4403.29663147,5807.84483542 |
2.225543 |
| 998 | mutation | R.FFGH:DAEDSLADQAANEWGR.S | G | D | 90 | 5 | 1 | SAA1 | E9PQD6 | Acute-phase-{ECO:0000256|RuleBase:RU000539};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 18291285-18291301;M1;18291302-18291351 | 1 | 2 | 3 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 40 | Unknown | 3.670220349 |
1593.08158224,5807.84483542 |
0.000000 |
| 998 | mutation | R.FFGH:DAEDSLADQAANEWGR.S | G | D | 90 | 5 | 1 | SAA1 | P0DJI8 | 3D-structure;-Acute-phase;-Amyloid;-Amyloidosis;-Complete-proteome;Direct-protein-sequencing;-HDL;-Heparin-binding;-Methylation;Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr11 | 18291285-18291301;M1;18291302-18291351 | 1 | 2 | 3 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | G->D(inalleleSAA1.2). | 3 | 1 | 40 | Unknown | 3.670220349 |
1593.08158224,5807.84483542 |
0.000000 |
| 999 | mutation | R.KFFGSLPDSWA:R.G | S | R | 197 | 12 | 1 | HTATIP2 | Q9BUP3 | 3D-structure;-Acetylation;-Alternative-splicing;-Angiogenesis;Apoptosis;-Complete-proteome;-Cytoplasm;-Developmental-protein;Differentiation;-Host-virus-interaction;-NADP;-Nucleus;Oxidoreductase;-Polymorphism;-Reference-proteome;-Tumor-suppressor. | Intracellular | Atlas | chr11 | 20404574-20404612;M1;20404613-20404616 | 2 | 3 | 30 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | S->R(highlyassociatedwith | 1 | 65 | 7783 | Unknown | 2.89813091735 |
2398.74075464,5807.84483542 |
1.324979 |
| 999 | mutation | R.KFFGSLPDSWA:R.G | S | R | 151 | 12 | 1 | HTATIP2 | E9PI87 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PI87,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 20404574-20404612;M1;20404613-20404616 | 2 | 3 | 30 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 65 | 7783 | Unknown | 2.89813091735 |
2398.74075464,5807.84483542 |
1.324979 |
| 1000 | mutation | K.AADL:HGDLTATR.E | N | H | 15 | 5 | 1 | RCN1 | E9PP27 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PP27,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 32119972-32119987;M1;32119988-32120014 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | - | 3 | 1 | 220 | Unknown | 4.83985967426 |
968.547588784,5807.84483542 |
0.000000 |
| 1000 | mutation | K.AADL:HGDLTATR.E | N | H | 181 | 5 | 1 | RCN1 | Q15293 | Alternative-splicing;-Calcium;-Complete-proteome;Endoplasmic-reticulum;-Glycoprotein;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr11 | 32119972-32119987;M1;32119988-32120014 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | - | 3 | 1 | 220 | Unknown | 4.83985967426 |
968.547588784,5807.84483542 |
0.000000 |
| 1001 | mutation | K.ILMPSLSPTMEEG:HIVK.W | N | H | 72 | 14 | 1 | PDHX | O00330 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Lipoyl;-Mitochondrion;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr11 | 34952961-34953003;M1;34953004-34953018 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | - | 8 | 1 | 60 | Unknown | 2.04703984286 |
3429.18002357,5807.84483542 |
0.000000 |
| 1002 | mutation | K.:IQEDPSLCGDKPSISAVTVELSKETV:DTMLDGLGR.I | L | V | 178 | 26 | 1 | COMMD9 | Q9P000 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasmic-vesicle;-Ion-transport;-Nucleus;-Reference-proteome;Sodium;-Sodium-transport;-Transcription;-Transcription-regulation;Transport;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr11 | 36296214-36296246;M1;36296247-36296322;36297686-36297689 | 1 | 1 | 14 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 250 | Unknown | 2.12903480536 |
3136.11890811,5807.84483542 |
0 |
| 1003 | mutation | R.NPDSST:MGPWCYTTDPTVR.R | T | M | 165 | 7 | 1 | F2 | P00734 | 3D-structure;-Acute-phase;-Blood-coagulation;-Calcium;Cleavage-on-pair-of-basic-residues;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Gamma-carboxyglutamic-acid;-Glycoprotein;-Hemostasis;-Hydrolase;Kringle;-Pharmaceutical;-Polymorphism;-Protease;-Reference-proteome;Repeat;-Secreted;-Serine-protease;-Signal;-Thrombophilia;-Zymogen. | Intracellular | Atlas | chr11 | 46744980-46745002;M1;46745003-46745043 | 1 | 4 | 9 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(polymorphism;confirmedat | 21 | 1 | 2 | Unknown | 4.12386000567 |
1324.34005821,5807.84483542 |
0.000000 |
| 1003 | mutation | R.NPDSST:MGPWCYTTDPTVR.R | T | M | 155 | 7 | 1 | F2 | C9JV37 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00439554};Proteomics-identification-{ECO:0000213|MaxQB:C9JV37,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 46744980-46745002;M1;46745003-46745043 | 1 | 4 | 9 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 21 | 1 | 2 | Unknown | 4.12386000567 |
1324.34005821,5807.84483542 |
0.000000 |
| 1003 | mutation | R.NPDSST:MGPWCYTTDPTVR.R | T | M | 165 | 7 | 1 | F2 | E9PIT3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00037407};Proteomics-identification-{ECO:0000213|EPD:E9PIT3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|RuleBase:RU363034,ECO:0000256|SAAS:SAAS00526611};-Signal-{ECO:0000256|SAM:SignalP}. | Intracellular | Atlas | chr11 | 46744980-46745002;M1;46745003-46745043 | 1 | 4 | 9 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 21 | 1 | 2 | Unknown | 4.12386000567 |
1324.34005821,5807.84483542 |
0.000000 |
| 1004 | mutation | K.TYTDELTPIESAVS:LFK.A | V | L | 159 | 15 | 1 | NDUFS3 | O75489 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-NAD;-Oxidoreductase;-Polymorphism;Reference-proteome;-Respiratory-chain;-Transit-peptide;-Transport; | Intracellular | Atlas | chr11 | 47603687-47603732;M1;47603733-47603744 | 1 | 4 | 6 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 2 | 500 | Unknown | 4.17656316446 |
1312.25584138,5807.84483542 |
0 |
| 1005 | mutation | R.APVIRPGGTLGLSEAADSDAR:.L | H | R | 1605 | 21 | 1 | TNKS1BP1 | Q9C0C2 | ADP-ribosylation;-Alternative-splicing;-Chromosome;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr11 | 57069563-57069567;M1;57069568-57069632 | 2 | 3 | 18 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1218 | Unknown | 2.77671699981 |
2603.90546641,5807.84483542 |
0.000000 |
| 1006 | mutation | K.IYHPD:VDENGQICLPIISSENWK.P | N | D | 85 | 5 | 1 | UBE2L6 | E9PQT7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQT7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ubl-conjugation-pathway-{ECO:0000256|RuleBase:RU362109, | Intracellular | Atlas | chr11 | 57321928-57321987;M1;57321988-57322003 | 2 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 6 | 1499 | Unknown | 3.41475012085 |
1792.84756372,5807.84483542 |
0.000000 |
| 1006 | mutation | K.IYHPD:VDENGQICLPIISSENWK.P | N | D | 78 | 5 | 1 | UBE2L6 | O14933 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Reference-proteome;-Transferase;Ubl-conjugation;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr11 | 57321928-57321987;M1;57321988-57322003 | 2 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 6 | 1499 | Unknown | 3.41475012085 |
1792.84756372,5807.84483542 |
0.000000 |
| 1006 | mutation | K.IYHPD:VDENGQICLPIISSENWK.P | N | D | 12 | 5 | 1 | UBE2L6 | E9PKW8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PKW8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ubl-conjugation-pathway-{ECO:0000256|RuleBase:RU362109, | Intracellular | Atlas | chr11 | 57321928-57321987;M1;57321988-57322003 | 2 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 6 | 1499 | Unknown | 3.41475012085 |
1792.84756372,5807.84483542 |
0.000000 |
| 1007 | mutation | F.LF:MLWDQQHK.F | V | M | 523 | 3 | 1 | SERPING1 | E9PGN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E9PGN7};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 57381979-57381988;M1;57381989-57382015 | 1 | 3 | 26 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 55 | 36 | 8947 | Unknown | 4.34005029262 |
1240.00680256,5807.84483542 |
0.000000 |
| 1007 | mutation | F.LF:MLWDQQHK.F | V | M | 480 | 3 | 1 | SERPING1 | P05155 | 3D-structure;-Alternative-splicing;-Blood-coagulation;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fibrinolysis;-Glycoprotein;Hemostasis;-Immunity;-Innate-immunity;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr11 | 57381979-57381988;M1;57381989-57382015 | 1 | 3 | 26 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs4926). | 55 | 36 | 8947 | Unknown | 4.34005029262 |
1240.00680256,5807.84483542 |
0.000000 |
| 1007 | mutation | F.LF:MLWDQQHK.F | V | M | 443 | 3 | 1 | SERPING1 | H9KV48 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H9KV48};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 57381979-57381988;M1;57381989-57382015 | 1 | 3 | 26 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 55 | 36 | 8947 | Unknown | 4.34005029262 |
1240.00680256,5807.84483542 |
0.000000 |
| 1008 | mutation | K.:KPDCDDWESGLNAMD:CALHLEK.N | E | D | 32 | 15 | 2 | FTH1 | E9PPQ4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Iron-storage-{ECO:0000256|RuleBase:RU361145};Proteomics-identification-{ECO:0000213|EPD:E9PPQ4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 61732515-61732539;M1;61732540-61732584;61732840-61732843 | 1 | 2 | 3 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.21416857865 |
2012.52912822,5807.84483542 |
0.000000 |
| 1008 | mutation | K.:KPDCDDWESGLNAMD:CALHLEK.N | E | D | 32 | 15 | 2 | FTH1 | G3V1D1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Iron-{ECO:0000256|RuleBase:RU361145,-ECO:0000256|SAAS:SAAS00477004};Iron-storage-{ECO:0000256|RuleBase:RU361145,Proteomics-identification-{ECO:0000213|EPD:G3V1D1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 61732515-61732539;M1;61732540-61732584;61732840-61732843 | 1 | 2 | 3 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.21416857865 |
2012.52912822,5807.84483542 |
0.000000 |
| 1008 | mutation | K.:KPDCDDWESGLNAMD:CALHLEK.N | E | D | 102 | 15 | 2 | FTH1 | P02794 | 3D-structure;-Acetylation;-Complete-proteome;-Iron;-Iron-storage;Metal-binding;-Oxidoreductase;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr11 | 61732515-61732539;M1;61732540-61732584;61732840-61732843 | 1 | 2 | 3 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.21416857865 |
2012.52912822,5807.84483542 |
0.000000 |
| 1008 | mutation | K.:KPDCDDWESGLNAMD:CALHLEK.N | E | D | 72 | 15 | 2 | FTH1 | G3V192 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Iron-{ECO:0000256|RuleBase:RU361145,-ECO:0000256|SAAS:SAAS00477004};Iron-storage-{ECO:0000256|RuleBase:RU361145,Proteomics-identification-{ECO:0000213|EPD:G3V192,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 61732515-61732539;M1;61732540-61732584;61732840-61732843 | 1 | 2 | 3 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 3.21416857865 |
2012.52912822,5807.84483542 |
0.000000 |
| 1009 | mutation | K.FDAP:LEAVAAK.L | P | L | 53 | 5 | 1 | SCGB1D2 | O95969 | Complete-proteome;-Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr11 | 62010846-62010862;M1;62010863-62010885 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs2232950). | 2 | 39 | 5675 | Unknown | 1.21455559606 |
3251.65525817,5807.84483542 |
0.000000 |
| 1010 | mutation | K.GPTVGGGLPGT:GVQGLEGNLQMPGIK.S | I | T | 5483 | 11 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62285391-62285440;M1;62285441-62285475 | 1 | 45 | 6 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1054 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1011 | mutation | K.IKGN:VPSVGLEGPDVDLQGPEAK.I | D | N | 5211 | 4 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62286195-62286257;M1;62286258-62286270 | 1 | 47 | 2 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 246 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1012 | mutation | K.MEGDLKP:PEVDIK.G | G | P | 3776 | 7 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62289771-62289794;M1;62289795-62289816 | 1 | 23 | 1 | 1 | 0 | 0 | 0 | 75 | 145 | 70 | -1.600000 | 0.000000 | - | 3 | 1 | 249 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1013 | mutation | K.VDIDTPDINIEGP:EGK.F | S | P | 3724 | 13 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62290704-62290718;M1;62290719-62290758 | 2 | 35 | 10 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs11231128). | 21 | 5 | 914 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1014 | mutation | K.AED:PEVDVNLPK.A | G | D | 766 | 3 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62294277-62294308;M1;62294309-62294319 | 2 | 35 | 18 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 7 | 997 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1015 | mutation | K.VDIDAPDVDVHGT:DWHLK.M | P | T | 743 | 13 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62295159-62295179;M1;62295180-62295219 | 1 | 38 | 55 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 102 | 1 | 79 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1016 | mutation | K.VSMPG:VDLNLK.- | D | G | 1785 | 5 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62296515-62296534;M1;62296535-62296551 | 2 | 36 | 18 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 1 | 5 | 255 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
1.000000 |
| 1017 | mutation | K.ADIDVSGPSVDTDAPDLDIEGPEGR:.L | K | R | 1763 | 25 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62296596-62296600;M1;62296601-62296677 | 2 | 38 | 10 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 258 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1018 | mutation | K.FGVSTGH:EGQTPK.A | R | H | 320 | 7 | 1 | AHNAK | Q09666 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62300907-62300929;M1;62300930-62300952 | 2 | 29 | 6 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 9 | 2 | 19 | Unknown | 4.88877084208 |
937.937643835,5807.84483542 |
0.000000 |
| 1019 | mutation | R.KLDPGSEETQM:LVR.E | T | M | 411 | 11 | 2 | EEF1G | P26641 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Elongation-factor;-Isopeptide-bond;Protein-biosynthesis;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr11 | 62327219-62327232;M1;62327233-62327267 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 1 | 250 | Unknown | 4.53462016987 |
1113.83549404,5807.84483542 |
0.000000 |
| 1020 | mutation | F.VALSPQ:GTAQGELFLDDGY:TFNYQTR.Q | H | Y | 753 | 19 | 1 | GANAB | F5H6X6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H6X6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 62393856-62393882;M1;62393883-62393919;62394042-62394063 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 1 | 249 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1020 | mutation | F.VALSPQ:GTAQGELFLDDGY:TFNYQTR.Q | H | Y | 850 | 19 | 1 | GANAB | Q14697 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Endoplasmic-reticulum;-Glycoprotein;-Glycosidase;-Golgi-apparatus;Hydrolase;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Signal. | Intracellular | Atlas | chr11 | 62393856-62393882;M1;62393883-62393919;62394042-62394063 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 1 | 249 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1020 | mutation | F.VALSPQ:GTAQGELFLDDGY:TFNYQTR.Q | H | Y | 758 | 19 | 1 | GANAB | E9PKU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PKU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 62393856-62393882;M1;62393883-62393919;62394042-62394063 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 1 | 249 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1021 | mutation | R.SGGV:ERPFVLAR.A | M | V | 497 | 4 | 1 | GANAB | F5H6X6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H6X6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 62397084-62397113;M1;62397114-62397126 | 1 | 6 | 10 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 7 | 1628 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1021 | mutation | R.SGGV:ERPFVLAR.A | M | V | 594 | 4 | 1 | GANAB | Q14697 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Endoplasmic-reticulum;-Glycoprotein;-Glycosidase;-Golgi-apparatus;Hydrolase;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Signal. | Intracellular | Atlas | chr11 | 62397084-62397113;M1;62397114-62397126 | 1 | 6 | 10 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 7 | 1628 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1021 | mutation | R.SGGV:ERPFVLAR.A | M | V | 502 | 4 | 1 | GANAB | E9PKU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PKU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 62397084-62397113;M1;62397114-62397126 | 1 | 6 | 10 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 7 | 1628 | Unknown | 5.20224417806 |
824.36433161,5807.84483542 |
0.000000 |
| 1023 | mutation | R.ICPVEFNPD:FVAR.M | N | D | 40 | 9 | 1 | TRMT112 | F5GX77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GX77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 64084780-64084797;M1;64084798-64084825 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 2.62172424012 |
2688.25476467,5807.84483542 |
0.000000 |
| 1023 | mutation | R.ICPVEFNPD:FVAR.M | N | D | 40 | 9 | 1 | TRMT112 | Q9UI30 | Alternative-splicing;-Complete-proteome;-Phosphoprotein; | Intracellular | Atlas | chr11 | 64084780-64084797;M1;64084798-64084825 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 2.62172424012 |
2688.25476467,5807.84483542 |
0.000000 |
| 1024 | mutation | R.HAGPVPVQVP:LR.L | V | L | 133 | 11 | 1 | EHBP1L1 | Q8N3D4 | Coiled-coil;-Complete-proteome;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr11 | 65347602-65347635;M1;65347636-65347644 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs1194100). | 29 | 85 | 6685 | Unknown | -0.785463088439 |
6705.02841728,5807.84483542 |
1.945472 |
| 1024 | mutation | R.HAGPVPVQVP:LR.L | V | L | 133 | 11 | 1 | EHBP1L1 | E9PIH6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PIH6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 65347602-65347635;M1;65347636-65347644 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 29 | 85 | 6685 | Unknown | -0.785463088439 |
6705.02841728,5807.84483542 |
1.945472 |
| 1024 | mutation | R.HAGPVPVQVP:LR.L | V | L | 133 | 11 | 1 | EHBP1L1 | A0A0U1RQH4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQH4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 65347602-65347635;M1;65347636-65347644 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 29 | 85 | 6685 | Unknown | -0.785463088439 |
6705.02841728,5807.84483542 |
1.945472 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 43 | 4 | 1 | DPP3 | E9PNX5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PNX5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 115 | 4 | 1 | DPP3 | E9PKK8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PKK8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 164 | 4 | 1 | DPP3 | G3V1D3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1D3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 145 | 4 | 1 | DPP3 | Q9NY33 | 3D-structure;-Acetylation;-Alternative-splicing;-Aminopeptidase;Complete-proteome;-Cytoplasm;-Hydrolase;-Metal-binding;Metalloprotease;-Polymorphism;-Protease;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | Q->H(indbSNP:rs11550299). | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 145 | 4 | 1 | DPP3 | E9PPK9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PPK9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 165 | 4 | 1 | DPP3 | G3V180 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V180,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1025 | mutation | R.GLW:HTCGELMFSLEPR.L | Q | H | 43 | 4 | 1 | DPP3 | E9PQ14 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQ14,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 66254070-66254084;M1;66254085-66254124 | 2 | 3 | 10 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 6 | 23 | 3413 | Unknown | 3.88210151034 |
1549.75175388,5807.84483542 |
3.225284 |
| 1026 | mutation | R.EANALAAGHPAQAA:AINAR.L | V | A | 1034 | 14 | 1 | SPTBN2 | O15020 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-splicing;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Disease-mutation;-Neurodegeneration;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Spinocerebellar-ataxia. | Intracellular | Atlas | chr11 | 66468449-66468468;M1;66468469-66468512 | 1 | 6 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs506028). | 20 | 17 | 1056 | Unknown | 2.14867590527 |
3315.03422356,5807.84483542 |
1.000000 |
| 1027 | mutation | K.Y:VSLIYTNY:EAGK.D | I | V | 105 | 2 | 1 | GSTP1 | P09211 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Mitochondrion;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr11 | 67352682-67352688;M1;67352689-67352712;67353574-67353589 | 4 | 15 | 542 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(inalleleGSTP1*Bandallele | 33 | 38 | 9499 | Unknown | 7.46466686149 |
456.795085832,5807.84483542 |
0.000000 |
| 1030 | mutation | R.HLTAQVC:SLEAQ:VAHADQQLR.D | R | C | 1681 | 7 | 1 | NUMA1 | Q14980 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Cell-cycle;-Cell-division;-Chromosome;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Glycoprotein;-Isopeptide-bond;-Microtubule;Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr11 | 71719861-71719891;71720012-71720029;M1;71720030-71720051 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 2 | 485 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1030 | mutation | R.HLTAQVC:SLEAQ:VAHADQQLR.D | R | C | 271 | 7 | 1 | NUMA1 | K4DIE0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K4DIE0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71719861-71719891;71720012-71720029;M1;71720030-71720051 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 2 | 485 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1030 | mutation | R.HLTAQVC:SLEAQ:VAHADQQLR.D | R | C | 512 | 7 | 1 | NUMA1 | H0YFY6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YFY6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71719861-71719891;71720012-71720029;M1;71720030-71720051 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 2 | 485 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1030 | mutation | R.HLTAQVC:SLEAQ:VAHADQQLR.D | R | C | 1665 | 7 | 1 | NUMA1 | A0A087WY61 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WY61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71719861-71719891;71720012-71720029;M1;71720030-71720051 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 2 | 485 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1031 | mutation | R.QFCSTQAALQAMEQ:EAEQMGNELER.L | R | Q | 972 | 14 | 1 | NUMA1 | Q14980 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Cell-cycle;-Cell-division;-Chromosome;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Glycoprotein;-Isopeptide-bond;-Microtubule;Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr11 | 71725596-71725633;M1;71725634-71725677 | 1 | 40 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 4 | 778 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1031 | mutation | R.QFCSTQAALQAMEQ:EAEQMGNELER.L | R | Q | 972 | 14 | 1 | NUMA1 | A0A087WY61 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WY61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71725596-71725633;M1;71725634-71725677 | 1 | 40 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 4 | 778 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1032 | mutation | R.ELAEAMG:AQHTAESECEQLVK.- | A | G | 794 | 7 | 1 | NUMA1 | Q14980 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Cell-cycle;-Cell-division;-Chromosome;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Glycoprotein;-Isopeptide-bond;-Microtubule;Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr11 | 71726124-71726167;M1;71726168-71726190 | 2 | 41 | 11 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs3750913). | 3 | 4 | 686 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1032 | mutation | R.ELAEAMG:AQHTAESECEQLVK.- | A | G | 794 | 7 | 1 | NUMA1 | A0A087WY61 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WY61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71726124-71726167;M1;71726168-71726190 | 2 | 41 | 11 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 4 | 686 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1032 | mutation | R.ELAEAMG:AQHTAESECEQLVK.- | A | G | 794 | 7 | 1 | NUMA1 | F5H4J1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H4J1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71726124-71726167;M1;71726168-71726190 | 2 | 41 | 11 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 4 | 686 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1033 | mutation | K.QQLSSLITDLQSSISS:LSQAK.E | N | S | 477 | 16 | 1 | NUMA1 | Q14980 | 3D-structure;-Acetylation;-ADP-ribosylation;-Alternative-splicing;Cell-cycle;-Cell-division;-Chromosome;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Glycoprotein;-Isopeptide-bond;-Microtubule;Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr11 | 71727099-71727118;M1;71727119-71727168 | 1 | 26 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 3 | 461 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1033 | mutation | K.QQLSSLITDLQSSISS:LSQAK.E | N | S | 477 | 16 | 1 | NUMA1 | A0A087WY61 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WY61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71727099-71727118;M1;71727119-71727168 | 1 | 26 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 3 | 461 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1033 | mutation | K.QQLSSLITDLQSSISS:LSQAK.E | N | S | 477 | 16 | 1 | NUMA1 | F5H6Y5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H6Y5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71727099-71727118;M1;71727119-71727168 | 1 | 26 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 3 | 461 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1033 | mutation | K.QQLSSLITDLQSSISS:LSQAK.E | N | S | 477 | 16 | 1 | NUMA1 | F5H4J1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H4J1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 71727099-71727118;M1;71727119-71727168 | 1 | 26 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 3 | 461 | Unknown | 4.31164066323 |
1242.3115963,5807.84483542 |
0.000000 |
| 1034 | mutation | K.LIDALIEI:FLQPSK.N | N | I | 608 | 8 | 1 | PGM2L1 | Q6PCE3 | Carbohydrate-metabolism;-Complete-proteome;-Glucose-metabolism;Isomerase;-Magnesium;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr11 | 74047720-74047742;M1;74047743-74047768 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | N->I(indbSNP:rs36014178). | 1 | 4 | 66 | Unknown | 2.22048007707 |
3130.43029086,5807.84483542 |
0.000000 |
| 1035 | mutation | R.DI:TTGYDSSQPNKK.S | V | I | 531 | 2 | 1 | PGM2L1 | Q6PCE3 | Carbohydrate-metabolism;-Complete-proteome;-Glucose-metabolism;Isomerase;-Magnesium;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr11 | 74053505-74053546;M1;74053547-74053553 | 3 | 2 | 43 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs592644). | 26 | 58 | 1121 | Unknown | 2.22048007707 |
3130.43029086,5807.84483542 |
1.818389 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 30 | 13 | 1 | RPS3 | H0YF32 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YF32,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 31 | 13 | 1 | RPS3 | H0YEU2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YEU2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU003624}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | E9PPU1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PPU1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | E9PL09 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PL09,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU003624}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | E9PJH4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PJH4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | P23396 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Cell-cycle;-Cell-division;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-DNA-damage;-DNA-repair;-DNA-binding;Isopeptide-bond;-Lyase;-Membrane;-Methylation;-Mitochondrion;Mitochondrion-inner-membrane;-Mitosis;-Nucleus;-Phosphoprotein;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein;-RNA-binding;Transcription;-Transcription-regulation;-Translation-regulation; | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | F2Z2S8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z2S8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 37 | 13 | 1 | RPS3 | H0YCJ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCJ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | E9PQ96 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQ96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1036 | mutation | R.ELAEDGYSGVEV:QVTPTR.T | R | Q | 40 | 13 | 1 | RPS3 | E9PK82 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PK82,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 75111785-75111825;M1;75111826-75111845 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 5.83520460954 |
668.80980551,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 40 | 7 | 1 | ALG8 | H0YDD3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YDD3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Intra-Cellular-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 134 | 7 | 1 | ALG8 | E9PKA5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PKA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Intra-Cellular-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 223 | 7 | 1 | ALG8 | E9PP96 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PP96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Intra-Cellular-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 222 | 7 | 1 | ALG8 | Q9BVK2 | Alternative-splicing;-Complete-proteome;Congenital-disorder-of-glycosylation;-Disease-mutation;Endoplasmic-reticulum;-Glycosyltransferase;-Membrane;-Polymorphism;Reference-proteome;-Transferase;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs665278). | 42 | 30 | 6216 | Unknown-Pep-localization | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 67 | 7 | 1 | ALG8 | H0YD42 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0YD42,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Targetable-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 96 | 7 | 1 | ALG8 | H0YEE0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0YEE0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Targetable-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1037 | mutation | R.SYCFTAS:KPD:GSIR.W | N | S | 171 | 7 | 1 | ALG8 | E9PK79 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PK79,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 77825018-77825035;77825311-77825319;M1;77825320-77825342 | 1 | 0 | 17 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 42 | 30 | 6216 | Intra-Cellular-Peptide | -0.618039570223 |
6565.90447963,5807.84483542 |
0.000000 |
| 1038 | mutation | K.DITDS:LVAVTISEGAHHLDLR.T | T | S | 444 | 5 | 1 | PRCP | P42785 | 3D-structure;-Alternative-splicing;-Carboxypeptidase;Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Polymorphism;-Protease;Reference-proteome;-Signal;-Zymogen. | Intracellular | Atlas | chr11 | 82536055-82536107;M1;82536108-82536124 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs2228312). | 3 | 4 | 987 | Unknown | 2.33670797985 |
3046.43378638,5807.84483542 |
0.000000 |
| 1039 | mutation | K.VGTASENVYVNT:AHLK.N | I | T | 153 | 12 | 1 | CTSC | P53634 | 3D-structure;-Alternative-splicing;-Chloride;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Palmoplantar-keratoderma;Polymorphism;-Protease;-Reference-proteome;-Signal;-Thiol-protease; | Intracellular | Atlas | chr11 | 88045566-88045582;M1;88045583-88045620 | 1 | 1 | 23 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs217086). | 65 | 80 | 17478 | Unknown | 3.35815147244 |
1968.56635158,5807.84483542 |
0.000000 |
| 1039 | mutation | K.VGTASENVYVNT:AHLK.N | I | T | 110 | 12 | 1 | CTSC | H0YCY8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCY8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr11 | 88045566-88045582;M1;88045583-88045620 | 1 | 1 | 23 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 65 | 80 | 17478 | Unknown | 3.35815147244 |
1968.56635158,5807.84483542 |
0.000000 |
| 1040 | mutation | R.ALTPQCGSGEDLYILTGTVPSDY:GVK.D | R | G | 208 | 24 | 1 | ENDOD1 | O94919 | Acetylation;-Complete-proteome;-Endonuclease;-Hydrolase;-Nuclease;Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr11 | 94861789-94861861;M1;94861862-94861873 | 1 | 12 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 2 | 265 | Unknown | - |
- |
0.000000 |
| 1041 | mutation | K.FFGLPITGMLNSH:VIEIMQKPR.C | R | H | 77 | 13 | 1 | MMP7 | P09237 | 3D-structure;-Calcium;-Collagen-degradation;-Complete-proteome;Direct-protein-sequencing;-Extracellular-matrix;-Hydrolase;Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Reference-proteome;-Secreted;-Signal;-Zinc;-Zymogen. | Intracellular | Atlas | chr11 | 102398561-102398592;M1;102398593-102398633 | 1 | 2 | 4 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs10502001). | 1 | 28 | 5821 | Unknown | 1.24590839411 |
3892.91898527,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 193 | 4 | 1 | TMPRSS4 | A0A087WWN4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00037407};Proteomics-identification-{ECO:0000213|MaxQB:A0A087WWN4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|RuleBase:RU363034};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 3 | 84 | 11747 | Intra-Cellular-Peptide | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 155 | 4 | 1 | TMPRSS4 | E5RIH1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00434285};Proteomics-identification-{ECO:0000213|PeptideAtlas:E5RIH1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 3 | 84 | 11747 | Intra-Cellular-Peptide | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 208 | 4 | 1 | TMPRSS4 | Q9NRS4 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Hydrolase;-Membrane;-Polymorphism;-Protease;-Reference-proteome;Serine-protease;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | V->G(indbSNP:rs1941635). | 3 | 84 | 11747 | Targetable | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 61 | 4 | 1 | TMPRSS4 | E7ESG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00037407};Proteomics-identification-{ECO:0000213|MaxQB:E7ESG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|RuleBase:RU363034, | Intracellular | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 3 | 84 | 11747 | Unknown | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 170 | 4 | 1 | TMPRSS4 | A0A087WTU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00037407};Proteomics-identification-{ECO:0000213|MaxQB:A0A087WTU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|RuleBase:RU363034}. | Intracellular | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 3 | 84 | 11747 | Unknown | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1043 | mutation | R.VVG:GEEASVDSWPWQVSIQYDK.- | V | G | 206 | 4 | 1 | TMPRSS4 | G3V124 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00037407};Proteomics-identification-{ECO:0000213|PeptideAtlas:G3V124};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr11 | 117982481-117982494;M1;117982495-117982550 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 3 | 84 | 11747 | Intra-Cellular-Peptide | -1.04027182796 |
6994.80799833,5807.84483542 |
0.000000 |
| 1044 | mutation | K.MSATFIGNNA:AIQELFK.R | T | A | 372 | 10 | 1 | TUBB8 | Q3ZCM7 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-GTP-binding;Isopeptide-bond;-Methylation;-Microtubule;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr10 | 93191-93217;M1;93218-93248 | 1 | 2 | 81 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 109 | 1 | 2 | Unknown | -0.179358811076 |
6357.13035968,5807.84483542 |
0.000000 |
| 1044 | mutation | K.MSATFIGNNA:AIQELFK.R | T | A | 335 | 10 | 1 | TUBB8 | A0A075B736 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B736,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 93191-93217;M1;93218-93248 | 1 | 2 | 81 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 109 | 1 | 2 | Unknown | -0.179358811076 |
6357.13035968,5807.84483542 |
0.000000 |
| 1044 | mutation | K.MSATFIGNNA:AIQELFK.R | T | A | 338 | 10 | 1 | TUBB8 | Q5SQY0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5SQY0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 93191-93217;M1;93218-93248 | 1 | 2 | 81 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 109 | 1 | 2 | Unknown | -0.179358811076 |
6357.13035968,5807.84483542 |
0.000000 |
| 1045 | mutation | R.DD:T:ERPPFIPEGVVAR.R | K | T | 371 | 3 | 1 | GTPBP4 | Q9BZE4 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-GTP-binding;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ribosome-biogenesis. | Intracellular | Atlas | chr10 | 1053056-1053066;M1;1053067-1053068;1054897-1054939 | 1 | 4 | 1 | 1 | 1 | 0 | -1 | 200 | 140 | -60 | -0.700000 | -0.400000 | - | 3 | 1 | 220 | Unknown | 2.88125313038 |
2451.68611652,5807.84483542 |
0.000000 |
| 1046 | mutation | K.LSVFST:IDAPVAPSDK.G | V | I | 963 | 7 | 1 | PITRM1 | Q5JRX3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disulfide-bond;-Hydrolase;-Metal-binding;-Metalloprotease;Mitochondrion;-Polymorphism;-Protease;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr10 | 3180527-3180529;3181095-3181125;M1;3181126-3181147 | 2 | 2 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs17849904). | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1046 | mutation | K.LSVFST:IDAPVAPSDK.G | V | I | 144 | 7 | 1 | PITRM1 | B1APQ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1APQ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3180527-3180529;3181095-3181125;M1;3181126-3181147 | 2 | 2 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1046 | mutation | K.LSVFST:IDAPVAPSDK.G | V | I | 521 | 7 | 1 | PITRM1 | A0A0A0MRX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3180527-3180529;3181095-3181125;M1;3181126-3181147 | 2 | 2 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1047 | mutation | K.LSVFSTI:DAPVAPSDK.G | V | I | 963 | 7 | 1 | PITRM1 | Q5JRX3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disulfide-bond;-Hydrolase;-Metal-binding;-Metalloprotease;Mitochondrion;-Polymorphism;-Protease;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr10 | 3181093-3181125;M1;3181126-3181147 | 2 | 1 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs17849904). | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1047 | mutation | K.LSVFSTI:DAPVAPSDK.G | V | I | 144 | 7 | 1 | PITRM1 | B1APQ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1APQ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3181093-3181125;M1;3181126-3181147 | 2 | 1 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1047 | mutation | K.LSVFSTI:DAPVAPSDK.G | V | I | 521 | 7 | 1 | PITRM1 | A0A0A0MRX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3181093-3181125;M1;3181126-3181147 | 2 | 1 | 10 | 2 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 13 | 3045 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1048 | mutation | K.FTQQDM:DEAK.L | I | M | 952 | 6 | 1 | PITRM1 | Q5JRX3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disulfide-bond;-Hydrolase;-Metal-binding;-Metalloprotease;Mitochondrion;-Polymorphism;-Protease;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr10 | 3181141-3181156;M1;3181157-3181177 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | I->M(indbSNP:rs2279219). | 17 | 1 | 250 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1048 | mutation | K.FTQQDM:DEAK.L | I | M | 133 | 6 | 1 | PITRM1 | B1APQ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1APQ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3181141-3181156;M1;3181157-3181177 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 17 | 1 | 250 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1048 | mutation | K.FTQQDM:DEAK.L | I | M | 510 | 6 | 1 | PITRM1 | A0A0A0MRX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3181141-3181156;M1;3181157-3181177 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 17 | 1 | 250 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
0.000000 |
| 1049 | mutation | R.AFSSLNTLPEELRPYVPLFCSI:LTK:.L | V | I | 621 | 22 | 1 | PITRM1 | Q5JRX3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disulfide-bond;-Hydrolase;-Metal-binding;-Metalloprotease;Mitochondrion;-Polymorphism;-Protease;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr10 | 3190479-3190483;3191812-3191822;M1;3191823-3191889 | 1 | 1 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2388556). | 58 | 14 | 2633 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
1.000000 |
| 1049 | mutation | R.AFSSLNTLPEELRPYVPLFCSI:LTK:.L | V | I | 179 | 22 | 1 | PITRM1 | A0A0A0MRX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3190479-3190483;3191812-3191822;M1;3191823-3191889 | 1 | 1 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 58 | 14 | 2633 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
1.000000 |
| 1050 | mutation | R.EAYFSVGLQGIV:EK.D | A | V | 34 | 12 | 1 | PITRM1 | H0Y4F7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4F7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 3200281-3200291;M1;3200292-3200329 | 2 | 0 | 106 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 59 | 8673 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
1.346644 |
| 1050 | mutation | R.EAYFSVGLQGIV:EK.D | A | V | 397 | 12 | 1 | PITRM1 | Q5JRX3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disulfide-bond;-Hydrolase;-Metal-binding;-Metalloprotease;Mitochondrion;-Polymorphism;-Protease;-Reference-proteome;Transit-peptide;-Zinc. | Intracellular | Atlas | chr10 | 3200281-3200291;M1;3200292-3200329 | 2 | 0 | 106 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs3182535). | 1 | 59 | 8673 | Unknown | 3.72671282451 |
1656.57863634,5807.84483542 |
1.346644 |
| 1051 | mutation | K.LISEVDSDGDGEISFQEFLTAAR:.K | K | R | 74 | 23 | 1 | CALML5 | Q9NZT1 | 3D-structure;-Acetylation;-Calcium;-Complete-proteome;Direct-protein-sequencing;-Metal-binding;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr10 | 5541176-5541180;M1;5541181-5541251 | 1 | 4 | 3 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(polymorphism;confirmedat | 6 | 24 | 1105 | Unknown | 2.22914247672 |
2598.70515978,5807.84483542 |
3.095134 |
| 1052 | mutation | R.SLPGE:LEEMM:EEVDQVTLYSYK.V | S | L | 35 | 6 | 1 | ITIH2 | Q5T987 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T987,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr10 | 7749163-7749182;M1;7749183-7749196;7750984-7751023 | 1 | 3 | 12 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 2 | 253 | Unknown | 3.50673470406 |
1834.37064353,5807.84483542 |
0.000000 |
| 1052 | mutation | R.SLPGE:LEEMM:EEVDQVTLYSYK.V | S | L | 60 | 6 | 1 | ITIH2 | A0A087WTE1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTE1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr10 | 7749163-7749182;M1;7749183-7749196;7750984-7751023 | 1 | 3 | 12 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 2 | 253 | Unknown | 3.50673470406 |
1834.37064353,5807.84483542 |
0.000000 |
| 1052 | mutation | R.SLPGE:LEEMM:EEVDQVTLYSYK.V | S | L | 60 | 6 | 1 | ITIH2 | P19823 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Gamma-carboxyglutamic-acid;-Glycoprotein;-Phosphoprotein;Polymorphism;-Protease-inhibitor;-Proteoglycan;-Reference-proteome;Secreted;-Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr10 | 7749163-7749182;M1;7749183-7749196;7750984-7751023 | 1 | 3 | 12 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 2 | 253 | Unknown | 3.50673470406 |
1834.37064353,5807.84483542 |
0.000000 |
| 1053 | mutation | R.NHPVPVIAMVNGLA:TAAGCQLVASCDIAVA:SDK.S | A | T | 204 | 15 | 1 | ECHDC3 | Q5W0J8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5W0J8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 11797421-11797466;M1;11797467-11797516;M1;11797517-11797526 | 2 | 1 | 21 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 21 | 66 | 6328 | Unknown | 2.75608567739 |
2566.52774153,5807.84483542 |
1.584963 |
| 1053 | mutation | R.NHPVPVIAMVNGLA:TAAGCQLVASCDIAVA:SDK.S | A | T | 151 | 15 | 1 | ECHDC3 | Q96DC8 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Mitochondrion;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr10 | 11797421-11797466;M1;11797467-11797516;M1;11797517-11797526 | 2 | 1 | 21 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs7910140). | 21 | 66 | 6328 | Unknown | 2.75608567739 |
2566.52774153,5807.84483542 |
1.584963 |
| 1053 | mutation | R.NHPVPVIAMVNGLA:TAAGCQLVASCDIAVA:SDK.S | A | T | 78 | 15 | 1 | ECHDC3 | Q5W0J6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5W0J6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 11797421-11797466;M1;11797467-11797516;M1;11797517-11797526 | 2 | 1 | 21 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 21 | 66 | 6328 | Unknown | 2.75608567739 |
2566.52774153,5807.84483542 |
1.584963 |
| 1054 | mutation | R.HA:MVVCQETDDTYIPLNHMDPNQK.G | I | M | 159 | 3 | 1 | DHTKD1 | H7C149 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C149,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 12143093-12143104;M1;12143105-12143171 | 2 | 1 | 13 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 19 | 60 | 4818 | Unknown | 1.80024468042 |
3683.63803036,5807.84483542 |
2.042744 |
| 1054 | mutation | R.HA:MVVCQETDDTYIPLNHMDPNQK.G | I | M | 607 | 3 | 1 | DHTKD1 | Q96HY7 | Charcot-Marie-Tooth-disease;-Complete-proteome;-Disease-mutation;Glycolysis;-Mitochondrion;-Neurodegeneration;-Neuropathy;Oxidoreductase;-Polymorphism;-Reference-proteome;Thiamine-pyrophosphate;-Transit-peptide. | Intracellular | Atlas | chr10 | 12143093-12143104;M1;12143105-12143171 | 2 | 1 | 13 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | I->M(indbSNP:rs2062988). | 19 | 60 | 4818 | Unknown | 1.80024468042 |
3683.63803036,5807.84483542 |
2.042744 |
| 1055 | mutation | K.DYALHA:GDGSSDPEVLLNIENQR.R | V | A | 189 | 6 | 1 | SVIL | O95425 | 3D-structure;-Actin-binding;-Alternative-splicing;-Calcium;Cell-junction;-Cell-membrane;-Cell-projection;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr10 | 29839731-29839786;M1;29839787-29839806 | 2 | 4 | 21 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs10160013). | 7 | 30 | 1598 | Unknown | 1.45224325846 |
4188.95148141,5807.84483542 |
3.546174 |
| 1056 | mutation | K.SMTCPATGIPEDI:LTHIGSVASSVPLEDFK.I | M | I | 600 | 13 | 1 | OGDHL | Q9ULD0 | Alternative-splicing;-Calcium;-Complete-proteome;-Glycolysis;Metal-binding;-Mitochondrion;-Oxidoreductase;-Polymorphism;Reference-proteome;-Thiamine-pyrophosphate;-Transit-peptide. | Intracellular | Atlas | chr10 | 50952046-50952100;M1;50952101-50952142 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 5 | 395 | Unknown | 1.82687751745 |
3680.62513099,5807.84483542 |
1.000000 |
| 1057 | mutation | R.DAASG:AEAPMQPGFPENLSK.- | P | A | 39 | 6 | 1 | ADO | Q96SZ5 | Complete-proteome;-Dioxygenase;-Iron;-Metal-binding;-Oxidoreductase;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr10 | 64564915-64564933;M1;64564934-64564978 | 2 | 10 | 21 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs10995311). | 12 | 50 | 4124 | Unknown | 1.33841759788 |
4167.18126663,5807.84483542 |
2.284368 |
| 1058 | mutation | R.YIELFLNSTPGGGSGMGGSGMG:AYGR.D | G | A | 284 | 23 | 2 | HNRNPH3 | P31942 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Methylation;-mRNA-processing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr10 | 70101346-70101416;M1;70101417-70101430 | 1 | 3 | 20 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs16925347). | 1 | 7 | 1601 | Unknown | 4.48505155439 |
1134.80835149,5807.84483542 |
0.000000 |
| 1059 | mutation | K.L:GVCFDVPTAS:LTEIQ:EK.W | V | L | 690 | 12 | 1 | DDX21 | Q9NR30 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Direct-protein-sequencing;-Helicase;-Hydrolase;Isopeptide-bond;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-RNA-binding;rRNA-processing;-Transcription;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 70738726-70738732;70741292-70741322;M1;70741323-70741337;70742298-70742307 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 142 | Unknown | 3.73710175906 |
1667.28784841,5807.84483542 |
0.000000 |
| 1060 | mutation | K.MCINTEWGGFGDNGCIDDI:R.T | W | R | 721 | 20 | 1 | HKDC1 | Q2TB90 | Alternative-splicing;-ATP-binding;-Complete-proteome;-Glycolysis;Kinase;-Nucleotide-binding;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr10 | 71018599-71018659;M1;71018660-71018665 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | W->R(indbSNP:rs1111335). | 1 | 65 | 2774 | Unknown | 0.825717688195 |
4709.26406337,5807.84483542 |
2.203918 |
| 1061 | mutation | K.AISAHFDDSS:SSSLK.N | A | S | 343 | 11 | 2 | H2AFY2 | Q9P0M6 | 3D-structure;-Chromatin-regulator;-Chromosome;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Nucleosome-core;-Nucleus;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 71871313-71871346;M1;71871347-71871364 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 3 | 292 | Unknown | 4.45778705293 |
1155.78756298,5807.84483542 |
0.000000 |
| 1062 | mutation | K.AFEPYLEILE:LYSTK.A | V | L | 21 | 11 | 1 | SGPL1 | O95470 | 3D-structure;-Acetylation;-Apoptosis;-Complete-proteome;Endoplasmic-reticulum;-Lipid-metabolism;-Lyase;-Membrane;-Nitration;Phosphoprotein;-Polymorphism;-Pyridoxal-phosphate;-Reference-proteome;Signal-anchor;-Sphingolipid-metabolism;-Transmembrane; | Membrane-Bound | Atlas | chr10 | 72604229-72604262;M1;72604263-72604280 | 1 | 1 | 34 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs12770335). | 1 | 11 | 1335 | Lumenal | 3.66986376257 |
1708.14369097,5807.84483542 |
1.000000 |
| 1063 | mutation | K.GFG:TDEQAIIDCLGSC:SNK.Q | R | C | 230 | 16 | 1 | ANXA11 | P50995 | Acetylation;-Alternative-splicing;-Annexin;-Calcium;Calcium/phospholipid-binding;-Cell-cycle;-Cell-division;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Nucleus;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr10 | 81926687-81926701;M1;81926702-81926740;81926981-81926991 | 2 | 4 | 260 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs1049550). | 82 | 39 | 9667 | Unknown | 4.49280212208 |
1144.10088014,5807.84483542 |
0.000000 |
| 1065 | mutation | R.CPETLFQPSFIG:MESAGIHETTD:NSIMKC.D | Y | D | 281 | 23 | 2 | ACTA2 | P62736 | Acetylation;-Aortic-aneurysm;-ATP-binding;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Isopeptide-bond;Methylation;-Muscle-protein;-Nucleotide-binding;-Oxidation;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr10 | 90697943-90697966;M1;90697967-90697999;90699263-90699300 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 230 | 150 | -80 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 7.00492623511 |
518.714641079,5807.84483542 |
0 |
| 1066 | mutation | R.TTG:IVLDSGDGVTHNVPIYEGYALPP:AI.M | H | P | 175 | 26 | 2 | ACTA2 | P62736 | Acetylation;-Aortic-aneurysm;-ATP-binding;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Isopeptide-bond;Methylation;-Muscle-protein;-Nucleotide-binding;-Oxidation;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr10 | 90701067-90701077;M1;90701078-90701147;90701541-90701551 | 1 | 0 | 8 | 1 | 0 | 0 | 0 | 195 | 145 | -50 | -1.600000 | 0.000000 | - | 1 | 2 | 500 | Unknown | 7.00492623511 |
518.714641079,5807.84483542 |
0.000000 |
| 1067 | mutation | R.KAE:ALIQQEHADQAEIR.S | E | A | 79 | 4 | 2 | IFIT2 | P09913 | 3D-structure;-Acetylation;-Antiviral-defense;-Apoptosis;Complete-proteome;-Cytoplasm;-Endoplasmic-reticulum;-Immunity;Innate-immunity;-Polymorphism;-Reference-proteome;-Repeat;RNA-binding;-TPR-repeat. | Intracellular | Atlas | chr10 | 91065935-91065948;M1;91065949-91065992 | 2 | 12 | 9 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | E->A(indbSNP:rs17468739). | 3 | 27 | 1861 | Unknown | 2.12112459727 |
3298.64084947,5807.84483542 |
2.153144 |
| 1067 | mutation | R.KAE:ALIQQEHADQAEIR.S | E | A | 79 | 4 | 2 | IFIT2 | A0A087X279 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087X279,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 91065935-91065948;M1;91065949-91065992 | 2 | 12 | 9 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 27 | 1861 | Unknown | 2.12112459727 |
3298.64084947,5807.84483542 |
2.153144 |
| 1068 | mutation | K.NGADSEALHVLAFLQELNE:R.M | K | R | 445 | 20 | 2 | IFIT2 | P09913 | 3D-structure;-Acetylation;-Antiviral-defense;-Apoptosis;Complete-proteome;-Cytoplasm;-Endoplasmic-reticulum;-Immunity;Innate-immunity;-Polymorphism;-Reference-proteome;-Repeat;RNA-binding;-TPR-repeat. | Intracellular | Atlas | chr10 | 91066985-91067046;M1;91067047-91067051 | 1 | 10 | 2 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 208 | Unknown | 2.12112459727 |
3298.64084947,5807.84483542 |
0.000000 |
| 1068 | mutation | K.NGADSEALHVLAFLQELNE:R.M | K | R | 445 | 20 | 2 | IFIT2 | A0A087X279 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087X279,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 91066985-91067046;M1;91067047-91067051 | 1 | 10 | 2 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 208 | Unknown | 2.12112459727 |
3298.64084947,5807.84483542 |
0.000000 |
| 1069 | mutation | K.ALDLE:TLSLLGFVYK.L | S | T | 439 | 6 | 2 | IFIT1 | P09914 | 3D-structure;-Alternative-splicing;-Antiviral-defense;Complete-proteome;-Cytoplasm;-Host-virus-interaction;-Immunity;Innate-immunity;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-RNA-binding;-TPR-repeat;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 91163328-91163347;M1;91163348-91163379 | 1 | 22 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 176 | Unknown | 3.64383591189 |
1692.69655956,5807.84483542 |
0 |
| 1070 | mutation | K.NL:IVIFADTLQ:GYGFPVNR.L | T | I | 396 | 3 | 1 | EXOC6 | Q8TAG9 | Alternative-splicing;-Complete-proteome;-Exocytosis;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr10 | 94695606-94695616;M1;94695617-94695642;94700483-94700510 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs1326331). | 3 | 54 | 1686 | Unknown | -0.0469305373028 |
5955.20954552,5807.84483542 |
2.107682 |
| 1070 | mutation | K.NL:IVIFADTLQ:GYGFPVNR.L | T | I | 73 | 3 | 1 | EXOC6 | F2Z3K0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z3K0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 94695606-94695616;M1;94695617-94695642;94700483-94700510 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 54 | 1686 | Unknown | -0.0469305373028 |
5955.20954552,5807.84483542 |
2.107682 |
| 1071 | mutation | R.DNDSDN:VESNLLLPAGIALR.W | D | N | 342 | 6 | 1 | MYOF | Q9NZM1 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Complete-proteome;-Cytoplasmic-vesicle;-Membrane;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr10 | 95161220-95161267;M1;95161268-95161286 | 2 | 3 | 11 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 2 | 251 | Intra-Cellular-Peptide | 4.02168304865 |
1442.44890405,5807.84483542 |
0.000000 |
| 1072 | mutation | K.WLLLNDPEDS:SSGSK.G | T | S | 308 | 10 | 1 | MYOF | Q9NZM1 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Complete-proteome;-Cytoplasmic-vesicle;-Membrane;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr10 | 95162036-95162055;M1;95162056-95162087 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 98 | Intra-Cellular-Peptide | 4.02168304865 |
1442.44890405,5807.84483542 |
0.000000 |
| 1073 | mutation | R.LLN:NWDVCADMVGTFTDTEDS:AK.F | P | S | 99 | 21 | 1 | RBP4 | A0A0C4DGV7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00443371};Proteomics-identification-{ECO:0000213|MaxQB:A0A0C4DGV7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr10 | 95360192-95360203;M1;95360204-95360256;95360423-95360434 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 3 | 29 | Unknown | 3.84740877745 |
1476.12386344,5807.84483542 |
0.000000 |
| 1073 | mutation | R.LLN:NWDVCADMVGTFTDTEDS:AK.F | P | S | 99 | 21 | 1 | RBP4 | Q5VY30 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00443371};Proteomics-identification-{ECO:0000213|MaxQB:Q5VY30,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr10 | 95360192-95360203;M1;95360204-95360256;95360423-95360434 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 3 | 29 | Unknown | 3.84740877745 |
1476.12386344,5807.84483542 |
0.000000 |
| 1073 | mutation | R.LLN:NWDVCADMVGTFTDTEDS:AK.F | P | S | 101 | 21 | 1 | RBP4 | P02753 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Microphthalmia;-Reference-proteome;Retinol-binding;-Secreted;-Sensory-transduction;-Signal;-Transport;Vision;-Vitamin-A. | Intracellular | Atlas | chr10 | 95360192-95360203;M1;95360204-95360256;95360423-95360434 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 3 | 29 | Unknown | 3.84740877745 |
1476.12386344,5807.84483542 |
0.000000 |
| 1074 | mutation | K.TAASGVEAS:SRP:LDHAQPPSSLVIDK.E | N | S | 175 | 9 | 1 | PDLIM1 | O00151 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-LIM-domain;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr10 | 97007077-97007123;97023620-97023629;M1;97023630-97023658 | 2 | 2 | 21 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs2296961). | 27 | 33 | 7962 | Unknown | 4.54386442947 |
1093.10944632,5807.84483542 |
0.000000 |
| 1075 | mutation | K.LIDIFYPGDQQSVTFGI:K.S | T | I | 299 | 17 | 1 | ALDH18A1 | P54886 | 3D-structure;-Alternative-splicing;-Amino-acid-biosynthesis;ATP-binding;-Complete-proteome;-Disease-mutation;Hereditary-spastic-paraplegia;-Kinase;-Membrane;-Mental-retardation;Mitochondrion;-Mitochondrion-inner-membrane;-Multifunctional-enzyme;NADP;-Neurodegeneration;-Nucleotide-binding;-Oxidoreductase;Polymorphism;-Proline-biosynthesis;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr10 | 97388154-97388161;M1;97388162-97388214 | 2 | 1 | 32 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(inARCL3A;dbSNP:rs2275272). | 21 | 13 | 1965 | Unknown | 3.57661236234 |
1799.61455106,5807.84483542 |
2.848079 |
| 1076 | mutation | K.HPAG:QQLDEFLQLAVDKVEAGLD:SGPCR.S | G | D | 365 | 23 | 1 | MMS19 | H0Y746 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y746,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 99220687-99220706;M1;99220707-99220764;99221252-99221265 | 1 | 3 | 9 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 5569 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
0.000000 |
| 1076 | mutation | K.HPAG:QQLDEFLQLAVDKVEAGLD:SGPCR.S | G | D | 790 | 23 | 1 | MMS19 | Q96T76 | Acetylation;-Activator;-Alternative-splicing;-Chromosome-partition;Complete-proteome;-Cytoplasm;-Cytoskeleton;-DNA-damage;-DNA-repair;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transcription;-Transcription-regulation. | Intracellular | Atlas | chr10 | 99220687-99220706;M1;99220707-99220764;99221252-99221265 | 1 | 3 | 9 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | G->D(indbSNP:rs3740526). | 1 | 30 | 5569 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
0.000000 |
| 1077 | mutation | R.G:IQLLSQVLLHCHTLLLEK.E | A | G | 68 | 1 | 1 | MMS19 | B0QZ77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QZ77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 99240699-99240757;M1;99240758-99240762 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 15 | 85 | 9544 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
1.167132 |
| 1077 | mutation | R.G:IQLLSQVLLHCHTLLLEK.E | A | G | 68 | 1 | 1 | MMS19 | Q5T454 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T454,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 99240699-99240757;M1;99240758-99240762 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 15 | 85 | 9544 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
1.167132 |
| 1077 | mutation | R.G:IQLLSQVLLHCHTLLLEK.E | A | G | 68 | 1 | 1 | MMS19 | Q96T76 | Acetylation;-Activator;-Alternative-splicing;-Chromosome-partition;Complete-proteome;-Cytoplasm;-Cytoskeleton;-DNA-damage;-DNA-repair;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transcription;-Transcription-regulation. | Intracellular | Atlas | chr10 | 99240699-99240757;M1;99240758-99240762 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs2275586). | 15 | 85 | 9544 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
1.167132 |
| 1077 | mutation | R.G:IQLLSQVLLHCHTLLLEK.E | A | G | 66 | 1 | 1 | MMS19 | H7C0A9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0A9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 99240699-99240757;M1;99240758-99240762 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 15 | 85 | 9544 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
1.167132 |
| 1077 | mutation | R.G:IQLLSQVLLHCHTLLLEK.E | A | G | 68 | 1 | 1 | MMS19 | F8WCH8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WCH8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 99240699-99240757;M1;99240758-99240762 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 15 | 85 | 9544 | Unknown | 1.70835986436 |
3865.82746738,5807.84483542 |
1.167132 |
| 1078 | mutation | K.DD:IHDVEDELAK.R | M | I | 635 | 3 | 1 | ADD3 | Q9UEY8 | Acetylation;-Actin-binding;-Alternative-splicing;-Calmodulin-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Membrane;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 111893148-111893159;M1;111893160-111893190 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 90 | Unknown | 2.83866397528 |
2523.22787178,5807.84483542 |
0.000000 |
| 1078 | mutation | K.DD:IHDVEDELAK.R | M | I | 601 | 3 | 1 | ADD3 | A0A087WX08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WX08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 111893148-111893159;M1;111893160-111893190 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 90 | Unknown | 2.83866397528 |
2523.22787178,5807.84483542 |
0.000000 |
| 1079 | mutation | K.VAQQPLSLVGCEVVPDPSPDHF:YSFR.I | L | F | 412 | 22 | 1 | AFAP1L2 | Q8N4X5 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr10 | 116064510-116064527;M1;116064528-116064594 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 10 | 564 | Unknown | 1.25571568511 |
4368.75442304,5807.84483542 |
0.000000 |
| 1080 | mutation | K.IFGG:DFIEQFK.- | E | G | 365 | 4 | 1 | HSPA12A | O43301 | Acetylation;-ATP-binding;-Complete-proteome;-Nucleotide-binding; | Intracellular | Atlas | chr10 | 118439183-118439205;M1;118439206-118439219 | 1 | 4 | 3 | 1 | -1 | 0 | 1 | 190 | 75 | -115 | -0.400000 | 0.000000 | - | 6 | 1 | 6 | Unknown | 2.52176885163 |
2868.89845702,5807.84483542 |
0.000000 |
| 1081 | mutation | R.DYC:VLLEGSGLALR:.G | G | C | 173 | 3 | 1 | PRDX3 | P30048 | 3D-structure;-Acetylation;-Alternative-splicing;-Antioxidant;Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Mitochondrion;-Oxidoreductase;-Peroxidase;-Phosphoprotein;Polymorphism;-Redox-active-center;-Reference-proteome; | Intracellular | Atlas | chr10 | 120928850-120928854;120931893-120931927;M1;120931928-120931937 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 75 | 135 | 60 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 1 | 218 | Unknown | 5.69260505644 |
676.394653655,5807.84483542 |
0 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 792 | 4 | 1 | TACC2 | D6RAA5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RAA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 2659 | 4 | 1 | TACC2 | E9PBC6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PBC6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 359 | 4 | 1 | TACC2 | Q4VXL4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q4VXL4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 2610 | 4 | 1 | TACC2 | E7EMZ9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 2732 | 4 | 1 | TACC2 | O95359 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs2295879). | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1082 | mutation | R.IGT:TEVEKPAGLLFQQPDLDSALQIAR.A | A | T | 822 | 4 | 1 | TACC2 | Q4VXL8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q4VXL8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 123996963-123996975;M1;123996976-123997050 | 2 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 34 | 1729 | Unknown | -2.88614873913 |
8225.39675376,5807.84483542 |
4.459432 |
| 1083 | mutation | R.IGIAAQ:MLGLAQGCFDYTIPY:VK.E | I | V | 316 | 22 | 1 | ACADSB | P45954 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-FAD;-Fatty-acid-metabolism;-Flavoprotein;Lipid-metabolism;-Mitochondrion;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr10 | 124803980-124804001;124806724-124806769;M1;124806770-124806778 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1131430). | 3 | 10 | 262 | Unknown | 2.60635898791 |
2747.88753307,5807.84483542 |
0.000000 |
| 1084 | mutation | R.GVLLDISGVLYDSGAGGG:K.A | T | K | 31 | 19 | 1 | LHPP | Q9H008 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Hydrolase;-Magnesium;-Metal-binding;-Nucleus;-Polymorphism; | Intracellular | Atlas | chr10 | 126150464-126150522;M1;126150523-126150527 | 1 | 0 | 4 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 12 | 6 | 954 | Unknown | 2.64268458312 |
2536.15780524,5807.84483542 |
0.000000 |
| 1084 | mutation | R.GVLLDISGVLYDSGAGGG:K.A | T | K | 31 | 19 | 1 | LHPP | Q5T1Z0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T1Z0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 126150464-126150522;M1;126150523-126150527 | 1 | 0 | 4 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 12 | 6 | 954 | Unknown | 2.64268458312 |
2536.15780524,5807.84483542 |
0.000000 |
| 1085 | mutation | R.LGFDISEQEVT:TPAPAACQILK.E | A | T | 82 | 12 | 1 | LHPP | Q9H008 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Hydrolase;-Magnesium;-Metal-binding;-Nucleus;-Polymorphism; | Intracellular | Atlas | chr10 | 126172789-126172825;M1;126172826-126172861 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 195 | Unknown | 2.64268458312 |
2536.15780524,5807.84483542 |
0.000000 |
| 1085 | mutation | R.LGFDISEQEVT:TPAPAACQILK.E | A | T | 82 | 12 | 1 | LHPP | Q5T1Z0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T1Z0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 126172789-126172825;M1;126172826-126172861 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 195 | Unknown | 2.64268458312 |
2536.15780524,5807.84483542 |
0.000000 |
| 1086 | mutation | K.SQPAASTLESE:SVQR.V | K | E | 3217 | 11 | 1 | MKI67 | P46013 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-cycle;-Chromosome;-Complete-proteome;-Isopeptide-bond;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 129899560-129899577;M1;129899578-129899611 | 2 | 2 | 6 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs8473). | 6 | 51 | 6207 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
2.491392 |
| 1086 | mutation | K.SQPAASTLESE:SVQR.V | K | E | 3216 | 11 | 1 | MKI67 | A0A087WV66 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WV66,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 129899560-129899577;M1;129899578-129899611 | 2 | 2 | 6 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 51 | 6207 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
2.491392 |
| 1087 | mutation | K.LTQTSGES:THTDKEPVGEGK.G | T | S | 2868 | 8 | 1 | MKI67 | P46013 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-cycle;-Chromosome;-Complete-proteome;-Isopeptide-bond;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 129901460-129901500;M1;129901501-129901526 | 2 | 9 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs2071496). | 12 | 30 | 3482 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
2.683373 |
| 1087 | mutation | K.LTQTSGES:THTDKEPVGEGK.G | T | S | 2867 | 8 | 1 | MKI67 | A0A087WV66 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WV66,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 129901460-129901500;M1;129901501-129901526 | 2 | 9 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 12 | 30 | 3482 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
2.683373 |
| 1088 | mutation | K.AQALEDLAV:FK.E | G | V | 1226 | 9 | 1 | MKI67 | P46013 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-cycle;-Chromosome;-Complete-proteome;-Isopeptide-bond;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr10 | 129906416-129906426;M1;129906427-129906455 | 1 | 17 | 3 | 1 | 0 | 0 | 0 | 75 | 155 | 80 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 7 | 516 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
1.000000 |
| 1088 | mutation | K.AQALEDLAV:FK.E | G | V | 1225 | 9 | 1 | MKI67 | A0A087WV66 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WV66,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr10 | 129906416-129906426;M1;129906427-129906455 | 1 | 17 | 3 | 1 | 0 | 0 | 0 | 75 | 155 | 80 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 7 | 516 | Unknown | 1.2232258044 |
4387.09705853,5807.84483542 |
1.000000 |
| 1089 | mutation | K.I:FEEDPAVGAIVLTGGDK.A | T | I | 75 | 1 | 1 | ECHS1 | P30084 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Fatty-acid-metabolism;Lipid-metabolism;-Lyase;-Mitochondrion;-Neurodegeneration;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr10 | 135184070-135184125;M1;135184126-135184130 | 2 | 4 | 501 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs1049951). | 1 | 64 | 15826 | Unknown | 5.82762131455 |
653.708579993,5807.84483542 |
0.000000 |
| 1090 | mutation | R.N:WLPLEGWNHVVK.- | D | N | 929 | 1 | 1 | GEMIN4 | P57678 | Acetylation;-Complete-proteome;-Cytoplasm;-mRNA-processing;mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr17 | 648459-648497;M1;648498-648501 | 1 | 5 | 4 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 10 | 66 | 5404 | Unknown | -0.162850272427 |
6044.98556442,5807.84483542 |
2.270685 |
| 1090 | mutation | R.N:WLPLEGWNHVVK.- | D | N | 918 | 1 | 1 | GEMIN4 | I3L2C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L2C7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 648459-648497;M1;648498-648501 | 1 | 5 | 4 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 10 | 66 | 5404 | Unknown | -0.162850272427 |
6044.98556442,5807.84483542 |
2.270685 |
| 1091 | mutation | K.FLG:QILTAFPALR.F | A | G | 579 | 3 | 1 | GEMIN4 | P57678 | Acetylation;-Complete-proteome;-Cytoplasm;-mRNA-processing;mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr17 | 649512-649546;M1;649547-649557 | 1 | 10 | 21 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs910925). | 37 | 34 | 2339 | Unknown | -0.162850272427 |
6044.98556442,5807.84483542 |
2.076597 |
| 1091 | mutation | K.FLG:QILTAFPALR.F | A | G | 568 | 3 | 1 | GEMIN4 | I3L2C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L2C7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 649512-649546;M1;649547-649557 | 1 | 10 | 21 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 37 | 34 | 2339 | Unknown | -0.162850272427 |
6044.98556442,5807.84483542 |
2.076597 |
| 1092 | mutation | K.TLSGPLDLEQN:GQGLPFK.A | S | G | 57 | 12 | 1 | TUSC5 | Q8IXB3 | Complete-proteome;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr17 | 1183427-1183463;M1;1183464-1183487 | 1 | 0 | 8 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs6502776). | 20 | 14 | 69 | Targetable | 0.228554517033 |
5185.92244609,5807.84483542 |
0.000000 |
| 1093 | mutation | A.MEPLG:WQ:LTSGPNQEQVSPLTLLK.- | R | W | 33 | 6 | 1 | SERPINF2 | C9JMH6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JMH6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 1648483-1648501;M1;1648502-1648507;1648626-1648677 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | - | 1 | 8 | 16 | Unknown | 2.59763161757 |
2687.46239028,5807.84483542 |
0.000000 |
| 1093 | mutation | A.MEPLG:WQ:LTSGPNQEQVSPLTLLK.- | R | W | 33 | 6 | 1 | SERPINF2 | C9JPV4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:C9JPV4};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 1648483-1648501;M1;1648502-1648507;1648626-1648677 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | - | 1 | 8 | 16 | Unknown | 2.59763161757 |
2687.46239028,5807.84483542 |
0.000000 |
| 1093 | mutation | A.MEPLG:WQ:LTSGPNQEQVSPLTLLK.- | R | W | 33 | 6 | 1 | SERPINF2 | P08697 | Acute-phase;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Isopeptide-bond;-Polymorphism;-Protease-inhibitor;Reference-proteome;-Secreted;-Serine-protease-inhibitor;-Signal; | Intracellular | Atlas | chr17 | 1648483-1648501;M1;1648502-1648507;1648626-1648677 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | R->W(indbSNP:rs2070863). | 1 | 8 | 16 | Unknown | 2.59763161757 |
2687.46239028,5807.84483542 |
0.000000 |
| 1094 | mutation | F.FIFEDTTGLPLFVGSV:K.N | R | K | 370 | 17 | 1 | SERPINF2 | A0A0G2JPA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JPA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 1657600-1657652;M1;1657653-1657657 | 2 | 2 | 14 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | - | 15 | 22 | 330 | Unknown | 2.59763161757 |
2687.46239028,5807.84483542 |
1.194988 |
| 1094 | mutation | F.FIFEDTTGLPLFVGSV:K.N | R | K | 434 | 17 | 1 | SERPINF2 | P08697 | Acute-phase;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Isopeptide-bond;-Polymorphism;-Protease-inhibitor;Reference-proteome;-Secreted;-Serine-protease-inhibitor;-Signal; | Intracellular | Atlas | chr17 | 1657600-1657652;M1;1657653-1657657 | 2 | 2 | 14 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | R->K(indbSNP:rs1057335). | 15 | 22 | 330 | Unknown | 2.59763161757 |
2687.46239028,5807.84483542 |
1.194988 |
| 1095 | mutation | R.NIYLMD:ASGK.V | T | A | 351 | 7 | 1 | RPA1 | P27694 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-DNA-damage;-DNA-recombination;-DNA-repair;DNA-replication;-DNA-binding;-Isopeptide-bond;-Metal-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation; | Intracellular | Atlas | chr17 | 1782930-1782951;M1;1782952-1782966 | 2 | 3 | 17 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs5030755). | 3 | 5 | 1091 | Unknown | 4.13983531776 |
1361.18358493,5807.84483542 |
0.000000 |
| 1095 | mutation | R.NIYLMD:ASGK.V | T | A | 107 | 7 | 1 | RPA1 | I3L4R8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4R8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 1782930-1782951;M1;1782952-1782966 | 2 | 3 | 17 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 5 | 1091 | Unknown | 4.13983531776 |
1361.18358493,5807.84483542 |
0.000000 |
| 1096 | mutation | R.GIVQNLHSMLPIQQLQE:WGVER.V | D | E | 421 | 17 | 2 | SHPK | Q9UHJ6 | ATP-binding;-Complete-proteome;-Cytoplasm;-Kinase;-Nucleotide-binding;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr17 | 3514009-3514027;M1;3514028-3514081 | 1 | 3 | 3 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | D->E(indbSNP:rs224496). | 7 | 66 | 1921 | Unknown | 1.10509865358 |
4588.62756915,5807.84483542 |
2.211012 |
| 1097 | mutation | K.SEDGTPAEDGTPAATGGSQPPSL:GR.K | M | L | 1128 | 23 | 1 | MYBBP1A | I3L1L3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L1L3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4443063-4443074;M1;4443075-4443144 | 2 | 5 | 2 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 3 | 299 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1097 | mutation | K.SEDGTPAEDGTPAATGGSQPPSL:GR.K | M | L | 1208 | 23 | 1 | MYBBP1A | Q9BQG0 | Acetylation;-Activator;-Alternative-splicing;-Biological-rhythms;Citrullination;-Complete-proteome;-Cytoplasm;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr17 | 4443063-4443074;M1;4443075-4443144 | 2 | 5 | 2 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | M->L(indbSNP:rs9905742). | 1 | 3 | 299 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1098 | mutation | R.SVFGHICSY:LTPR.A | H | Y | 600 | 9 | 1 | MYBBP1A | I3L1L3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L1L3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4448922-4448939;M1;4448940-4448967 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 4 | 730 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1098 | mutation | R.SVFGHICSY:LTPR.A | H | Y | 680 | 9 | 1 | MYBBP1A | Q9BQG0 | Acetylation;-Activator;-Alternative-splicing;-Biological-rhythms;Citrullination;-Complete-proteome;-Cytoplasm;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr17 | 4448922-4448939;M1;4448940-4448967 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | H->Y(indbSNP:rs899440). | 3 | 4 | 730 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1099 | mutation | K.ALVDV:LSE:VSK.A | I | V | 104 | 5 | 1 | MYBBP1A | I3L1L3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L1L3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4455909-4455921;4457104-4457115;M1;4457116-4457131 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 236 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1099 | mutation | K.ALVDV:LSE:VSK.A | I | V | 184 | 5 | 1 | MYBBP1A | Q9BQG0 | Acetylation;-Activator;-Alternative-splicing;-Biological-rhythms;Citrullination;-Complete-proteome;-Cytoplasm;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr17 | 4455909-4455921;4457104-4457115;M1;4457116-4457131 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 236 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0.000000 |
| 1100 | mutation | R.EL:LDFFWDIAKPEQETR.L | F | L | 35 | 2 | 1 | MYBBP1A | Q9BQG0 | Acetylation;-Activator;-Alternative-splicing;-Biological-rhythms;Citrullination;-Complete-proteome;-Cytoplasm;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr17 | 4458466-4458514;M1;4458515-4458523 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 174 | Unknown | 3.04659470293 |
2299.39342277,5807.84483542 |
0 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | P13929 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Disease-mutation;-Glycogen-storage-disease;-Glycolysis;Lyase;-Magnesium;-Metal-binding;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs238238). | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | K7EKN2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKN2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | E5RI09 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RI09,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | K7EPM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EPM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | E5RG95 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RG95,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1101 | mutation | K.AVENIN:STLGPALLQK:.K | N | S | 71 | 7 | 1 | ENO3 | E5RGZ4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RGZ4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 4856353-4856375;M1;4856376-4856404;4856566-4856569 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 53 | 1260 | Unknown | 3.71620831224 |
1576.83718071,5807.84483542 |
1.730935 |
| 1102 | mutation | K.GGGAGGGGGAASGPAAGTPSAPGP:R.T | S | P | 63 | 24 | 1 | YBX2 | Q9Y2T7 | Complete-proteome;-Cytoplasm;-DNA-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr17 | 7197624-7197632;M1;7197633-7197705 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs8069533). | 1 | 36 | 928 | Unknown | -0.707688921911 |
7112.14326031,5807.84483542 |
1.476723 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 114 | 6 | 1 | TP53 | A0A087X1Q1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1Q1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 234 | 6 | 1 | TP53 | A0A0U1RQC9 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQC9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304};Transmembrane-helix-{ECO:0000256|SAM:Phobius}; | Membrane-Bound | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Targetable-Peptide | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 114 | 6 | 1 | TP53 | A0A087WXZ1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXZ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 262 | 6 | 1 | TP53 | A0A087WZU8 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZU8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 114 | 6 | 1 | TP53 | A0A087WT22 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WT22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 273 | 6 | 1 | TP53 | P04637 | 3D-structure;-Acetylation;-Activator;-Alternative-promoter-usage;Alternative-splicing;-Apoptosis;-Biological-rhythms;-Cell-cycle;Complete-proteome;-Cytoplasm;-Disease-mutation;-DNA-binding;Endoplasmic-reticulum;-Glycoprotein;-Host-virus-interaction;Isopeptide-bond;-Li-Fraumeni-syndrome;-Metal-binding;-Methylation;Mitochondrion;-Necrosis;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Tumor-suppressor;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->C(inLFS;germlinemutationandin R->G(inLFS;germlinemutationandin R->H(inLFS;germlinemutationandin R->L(inLFS;germlinemutationandin R->N(inasporadiccancer;somatic R->P(insporadiccancers;somatic R->Q(insporadiccancers;somatic R->S(inafamilialcancernotmatching R->Y(inasporadiccancer;somatic |
8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 273 | 6 | 1 | TP53 | J3KP33 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KP33,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1103 | mutation | R.NSFEVH:VCACPGR.D | R | H | 141 | 6 | 1 | TP53 | E7ESS1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577119;M1;7577120-7577139 | 1 | 1 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 114 | 6 | 1 | TP53 | A0A087X1Q1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1Q1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 234 | 6 | 1 | TP53 | A0A0U1RQC9 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQC9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304};Transmembrane-helix-{ECO:0000256|SAM:Phobius}; | Membrane-Bound | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Targetable-Peptide | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 114 | 6 | 1 | TP53 | A0A087WXZ1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXZ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 262 | 6 | 1 | TP53 | A0A087WZU8 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZU8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 114 | 6 | 1 | TP53 | A0A087WT22 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WT22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 273 | 6 | 1 | TP53 | P04637 | 3D-structure;-Acetylation;-Activator;-Alternative-promoter-usage;Alternative-splicing;-Apoptosis;-Biological-rhythms;-Cell-cycle;Complete-proteome;-Cytoplasm;-Disease-mutation;-DNA-binding;Endoplasmic-reticulum;-Glycoprotein;-Host-virus-interaction;Isopeptide-bond;-Li-Fraumeni-syndrome;-Metal-binding;-Methylation;Mitochondrion;-Necrosis;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Tumor-suppressor;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(inLFS;germlinemutationandin R->G(inLFS;germlinemutationandin R->H(inLFS;germlinemutationandin R->L(inLFS;germlinemutationandin R->N(inasporadiccancer;somatic R->P(insporadiccancers;somatic R->Q(insporadiccancers;somatic R->S(inafamilialcancernotmatching R->Y(inasporadiccancer;somatic |
1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 273 | 6 | 1 | TP53 | J3KP33 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KP33,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1104 | mutation | R.NSFEVC:VCACPGR.D | R | C | 141 | 6 | 1 | TP53 | E7ESS1 | Cell-cycle-{ECO:0000256|RuleBase:RU003304};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transcription-regulation-{ECO:0000256|RuleBase:RU003304}; | Intracellular | Atlas | chr17 | 7577094-7577120;M1;7577121-7577139 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 0.940598004694 |
4522.87921877,5807.84483542 |
0.000000 |
| 1105 | mutation | K.MQAHIQ:DLEEQLDEEEGV:R.Q | A | V | 965 | 18 | 1 | MYH10 | P35580 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;ATP-binding;-Calmodulin-binding;-Cell-adhesion;-Cell-projection;Cell-shape;-Coiled-coil;-Complete-proteome;-Motor-protein;-Myosin;Nucleotide-binding;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr17 | 8413225-8413232;M1;8413233-8413267;8415768-8415789 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 2 | 187 | Unknown | 5.09256432074 |
859.171522785,5807.84483542 |
0 |
| 1106 | mutation | R.GVDLSGNDL:K:.M | F | L | 20 | 9 | 1 | FLII | J3KS39 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KS39,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 18160437-18160440;18161941-18161944;M1;18161945-18161974 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 2 | 206 | Unknown | 2.53162143335 |
2876.04840948,5807.84483542 |
0.000000 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 110 | 16 | 1 | EPN2 | I3L356 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:I3L356,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 401 | 16 | 1 | EPN2 | E9PBC1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PBC1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 337 | 16 | 1 | EPN2 | I3L2B2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L2B2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 344 | 16 | 1 | EPN2 | F6PQP6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6PQP6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 109 | 16 | 1 | EPN2 | I3L2H1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:I3L2H1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1107 | mutation | K.PAASIDPWGVPTGAT:AQSVPK.- | V | A | 401 | 16 | 1 | EPN2 | O95208 | Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoplasmic-vesicle;-Endocytosis;-Lipid-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 19232028-19232077;M1;19232078-19232094 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs6587220). | 9 | 83 | 6974 | Unknown | -0.416234244559 |
6363.03985664,5807.84483542 |
1.389975 |
| 1108 | mutation | K.:GILTAIAADLCK:.E | D | G | 40 | 1 | 1 | ALDH3A2 | J3QKK9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QKK9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 19552398-19552402;M1;19552403-19552437;19555859-19555862 | 2 | 2 | 3 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 3 | 19 | 108 | Unknown | 2.92490548186 |
2449.8294437,5807.84483542 |
0.000000 |
| 1113 | mutation | M.DWLL:PATCEPIQSVFFFSGD:K.Y | V | L | 426 | 4 | 4 | VTN | P04004 | 3D-structure;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Heparin-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr17 | 26694494-26694502;26694735-26694783;M1;26694784-26694796 | 2 | 8 | 18 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 102 | Unknown | 4.36277927517 |
1144.12185007,5807.84483542 |
0.000000 |
| 1114 | mutation | K.LDY:DGAILDVDEDDVEK:.A | H | Y | 90 | 3 | 1 | MYO18A | H0YEV9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YEV9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 27448738-27448741;27448868-27448912;M1;27448913-27448922 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 4 | 115 | Unknown | 1.14236107697 |
4570.70086123,5807.84483542 |
0.000000 |
| 1114 | mutation | K.LDY:DGAILDVDEDDVEK:.A | H | Y | 384 | 3 | 1 | MYO18A | A0A0D9SFK2 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467347,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Motor-protein-{ECO:0000256|SAAS:SAAS00476553};Proteomics-identification-{ECO:0000213|EPD:A0A0D9SFK2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 27448738-27448741;27448868-27448912;M1;27448913-27448922 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 4 | 115 | Unknown | 1.14236107697 |
4570.70086123,5807.84483542 |
0.000000 |
| 1114 | mutation | K.LDY:DGAILDVDEDDVEK:.A | H | Y | 384 | 3 | 1 | MYO18A | Q92614 | Alternative-splicing;-ATP-binding;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Golgi-apparatus;-Motor-protein;-Myosin;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 27448738-27448741;27448868-27448912;M1;27448913-27448922 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 4 | 115 | Unknown | 1.14236107697 |
4570.70086123,5807.84483542 |
0.000000 |
| 1115 | mutation | R.TTANA:VYCPPK.L | I | V | 200 | 6 | 1 | PSMD11 | O00231 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Isopeptide-bond;-Nucleus;-Phosphoprotein;Proteasome;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 30796147-30796165;M1;30796166-30796186 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 250 | Unknown | 4.49321493782 |
1141.63615773,5807.84483542 |
0.000000 |
| 1115 | mutation | R.TTANA:VYCPPK.L | I | V | 27 | 6 | 1 | PSMD11 | J3QS13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QS13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 30796147-30796165;M1;30796166-30796186 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 250 | Unknown | 4.49321493782 |
1141.63615773,5807.84483542 |
0.000000 |
| 1116 | mutation | K.EASQGSSASSAP:QSVK.R | H | Q | 99 | 13 | 2 | ZNF830 | Q96NB3 | Acetylation;-Cell-cycle;-Cell-division;-Chromosome;-Coiled-coil;Complete-proteome;-Developmental-protein;-Metal-binding;-Mitosis;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Zinc; | Intracellular | Atlas | chr17 | 33288840-33288881;M1;33288882-33288894 | 1 | 4 | 13 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | H->Q(indbSNP:rs931196). | 32 | 82 | 4326 | Unknown | -0.234612108508 |
6149.00352982,5807.84483542 |
1.405121 |
| 1117 | mutation | R.FGIQAQ:LVTTDFQK.I | M | L | 34 | 7 | 1 | PSMB3 | P49720 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Host-virus-interaction;-Hydrolase;-Nucleus;Polymorphism;-Protease;-Proteasome;-Reference-proteome; | Intracellular | Atlas | chr17 | 36909477-36909498;M1;36909499-36909525 | 2 | 3 | 59 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | M->L(indbSNP:rs4907). | 6 | 6 | 1490 | Unknown | 2.75047891098 |
2576.03432196,5807.84483542 |
0.000000 |
| 1117 | mutation | R.FGIQAQ:LVTTDFQK.I | M | L | 34 | 7 | 1 | PSMB3 | A0A087WXQ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXQ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 36909477-36909498;M1;36909499-36909525 | 2 | 3 | 59 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 6 | 1490 | Unknown | 2.75047891098 |
2576.03432196,5807.84483542 |
0.000000 |
| 1117 | mutation | R.FGIQAQ:LVTTDFQK.I | M | L | 34 | 7 | 1 | PSMB3 | A0A087WY10 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WY10,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 36909477-36909498;M1;36909499-36909525 | 2 | 3 | 59 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 6 | 1490 | Unknown | 2.75047891098 |
2576.03432196,5807.84483542 |
0.000000 |
| 1117 | mutation | R.FGIQAQ:LVTTDFQK.I | M | L | 31 | 7 | 1 | PSMB3 | A0A087WUL2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUL2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 36909477-36909498;M1;36909499-36909525 | 2 | 3 | 59 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 6 | 1490 | Unknown | 2.75047891098 |
2576.03432196,5807.84483542 |
0.000000 |
| 1118 | mutation | R.TATL:QHDADGQATLLNLLLR.- | R | Q | 241 | 5 | 1 | PSMD3 | O43242 | Alternative-splicing;-Complete-proteome;-Isopeptide-bond;Phosphoprotein;-Proteasome;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 38146010-38146026;M1;38146027-38146073 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 4.03595194225 |
1436.0871746,5807.84483542 |
0 |
| 1119 | mutation | R.TFQALEIDLQA:QYST:K.S | T | A | 303 | 11 | 1 | KRT23 | Q9C075 | Alternative-splicing;-Coiled-coil;-Complete-proteome;Intermediate-filament;-Keratin;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 39081820-39081826;39084489-39084503;M1;39084504-39084537 | 2 | 3 | 5 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs9257). | 1 | 33 | 5331 | Unknown | 2.15934684363 |
3041.46356848,5807.84483542 |
0.000000 |
| 1120 | mutation | K.QTPA:SPECDYSQYFK.T | T | A | 147 | 4 | 1 | KRT15 | P19012 | Alternative-splicing;-Coiled-coil;-Complete-proteome;Intermediate-filament;-Keratin;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr17 | 39674602-39674640;M1;39674641-39674653 | 2 | 3 | 8 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs1050784). | 15 | 39 | 1742 | Unknown | 0.474040899095 |
4581.83693888,5807.84483542 |
2.299843 |
| 1121 | mutation | G.G:YGGGYGGVLTASDGLLAGNEK.L | A | G | 60 | 1 | 1 | KRT19 | C9JM50 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467002,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00466996};Proteomics-identification-{ECO:0000213|EPD:C9JM50,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39684253-39684320;M1;39684321-39684325 | 2 | 9 | 275 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 23 | 60 | 14950 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0.000000 |
| 1121 | mutation | G.G:YGGGYGGVLTASDGLLAGNEK.L | A | G | 60 | 1 | 1 | KRT19 | P08727 | Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Host-virus-interaction;-Intermediate-filament;-Keratin;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 39684253-39684320;M1;39684321-39684325 | 2 | 9 | 275 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs4602). | 23 | 60 | 14950 | Unknown | 6.77835620005 |
543.833594911,5807.84483542 |
0.000000 |
| 1122 | mutation | R.TSCP:LSGGLGAGSCR.L | R | P | 15 | 4 | 2 | KRT17 | K7EPJ9 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467002,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Intermediate-filament-{ECO:0000256|SAAS:SAAS00466996};Proteomics-identification-{ECO:0000213|EPD:K7EPJ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39780635-39780672;M1;39780673-39780686 | 1 | 6 | 3 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 3 | 1 | 215 | Unknown | 5.39823606234 |
759.28293468,5807.84483542 |
1.584963 |
| 1122 | mutation | R.TSCP:LSGGLGAGSCR.L | R | P | 30 | 4 | 2 | KRT17 | Q04695 | Coiled-coil;-Complete-proteome;-Cytoplasm;-Disease-mutation;Ectodermal-dysplasia;-Intermediate-filament;-Isopeptide-bond;-Keratin;Palmoplantar-keratoderma;-Phosphoprotein;-Reference-proteome; | Intracellular | Atlas | chr17 | 39780635-39780672;M1;39780673-39780686 | 1 | 6 | 3 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 3 | 1 | 215 | Unknown | 5.39823606234 |
759.28293468,5807.84483542 |
1.584963 |
| 1123 | mutation | K.LLS:QPNQWPLVK:.A | N | S | 490 | 3 | 1 | JUP | P14923 | 3D-structure;-Acetylation;-Cardiomyopathy;-Cell-adhesion;Cell-junction;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;-Membrane;Palmoplantar-keratoderma;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr17 | 39915119-39915122;39919234-39919262;M1;39919263-39919273 | 1 | 9 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1124 | mutation | R.AGDKDDITEPAI:CALR.H | V | I | 456 | 12 | 1 | JUP | P14923 | 3D-structure;-Acetylation;-Cardiomyopathy;-Cell-adhesion;Cell-junction;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;-Membrane;Palmoplantar-keratoderma;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr17 | 39919348-39919365;M1;39919366-39919402 | 1 | 6 | 2 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 249 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1125 | mutation | K.SAIVHLINYQDDAELATH:ALPELTK.L | R | H | 142 | 18 | 1 | JUP | C9J826 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J826,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39925687-39925712;M1;39925713-39925768 | 1 | 8 | 11 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 2 | 500 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1125 | mutation | K.SAIVHLINYQDDAELATH:ALPELTK.L | R | H | 142 | 18 | 1 | JUP | C9JK18 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JK18,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39925687-39925712;M1;39925713-39925768 | 1 | 8 | 11 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 2 | 500 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1125 | mutation | K.SAIVHLINYQDDAELATH:ALPELTK.L | R | H | 142 | 18 | 1 | JUP | P14923 | 3D-structure;-Acetylation;-Cardiomyopathy;-Cell-adhesion;Cell-junction;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-Glycoprotein;-Membrane;Palmoplantar-keratoderma;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr17 | 39925687-39925712;M1;39925713-39925768 | 1 | 8 | 11 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs41283425). | 12 | 2 | 500 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1125 | mutation | K.SAIVHLINYQDDAELATH:ALPELTK.L | R | H | 142 | 18 | 1 | JUP | C9JTX4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JTX4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39925687-39925712;M1;39925713-39925768 | 1 | 8 | 11 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 2 | 500 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1125 | mutation | K.SAIVHLINYQDDAELATH:ALPELTK.L | R | H | 142 | 18 | 1 | JUP | C9JKY1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JKY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 39925687-39925712;M1;39925713-39925768 | 1 | 8 | 11 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 2 | 500 | Unknown | 4.1944928968 |
1322.36456308,5807.84483542 |
0.000000 |
| 1126 | mutation | K.HLLVHAP:DDKK.E | E | D | 175 | 8 | 1 | ACLY | P53396 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Cytoplasm;-Isopeptide-bond;-Lipid-biosynthesis;Lipid-metabolism;-Magnesium;-Metal-binding;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase; | Intracellular | Atlas | chr17 | 40065320-40065321;40065762-40065773;M1;40065774-40065800 | 1 | 4 | 4 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs2304497). | 9 | 8 | 1402 | Unknown | 3.74161933747 |
1663.41936199,5807.84483542 |
2.792481 |
| 1127 | mutation | K.NEPQNATGAPGQ:NR.G | R | Q | 196 | 12 | 2 | RAB5C | P51148 | 3D-structure;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Endosome;-GTP-binding;-Lipoprotein;-Membrane;-Nucleotide-binding;Polymorphism;-Prenylation;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr17 | 40277854-40277864;M1;40277865-40277902 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 4.73618803201 |
1015.94264501,5807.84483542 |
0 |
| 1128 | mutation | -.YPIKPEAPG:EDASPEELNR.Y | R | G | 37 | 8 | 1 | PYY | P10082 | 3D-structure;-Alternative-splicing;-Amidation;Cleavage-on-pair-of-basic-residues;-Complete-proteome;Direct-protein-sequencing;-Hormone;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr17 | 42030707-42030742;M1;42030743-42030767 | 2 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs229969). | 1 | 34 | 468 | Unknown | 2.07534011375 |
3626.02177974,5807.84483542 |
0.000000 |
| 1129 | mutation | K.I:FPNQ:VLKPFLEDSK.Y | V | I | 125 | 1 | 1 | MRPL10 | Q7Z7H8 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Mitochondrion;Polymorphism;-Reference-proteome;-Ribonucleoprotein;Ribosomal-protein;-Transit-peptide. | Intracellular | Atlas | chr17 | 45904114-45904147;45904405-45904419;M1;45904420-45904423 | 2 | 0 | 14 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs16948568). | 1 | 32 | 6680 | Unknown | 1.45254319279 |
3996.91661888,5807.84483542 |
0.000000 |
| 1130 | mutation | R.GVQGPL:GPAGPR.G | P | L | 691 | 6 | 1 | COL1A1 | P02452 | 3D-structure;-Calcium;-Chromosomal-rearrangement;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dwarfism;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Osteogenesis-imperfecta;-Phosphoprotein;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr17 | 48269181-48269203;M1;48269204-48269223 | 1 | 0 | 8 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 4.46609643131 |
1131.77703593,5807.84483542 |
0 |
| 1131 | mutation | R.GNDGATGAAGPP:GPTGPAGPPGFPGT:VGAK:.G | A | T | 348 | 26 | 1 | COL1A1 | P02452 | 3D-structure;-Calcium;-Chromosomal-rearrangement;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dwarfism;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Osteogenesis-imperfecta;-Phosphoprotein;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr17 | 48273023-48273026;48273283-48273297;M1;48273298-48273337;48273515-48273554 | 1 | 4 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 15 | Unknown | 4.46609643131 |
1131.77703593,5807.84483542 |
0.000000 |
| 1132 | mutation | K.VFGVLED:YSPTLLADIYMDSDYRK.Q | C | Y | 63 | 8 | 1 | PCTP | I3L3H0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L3H0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 53844716-53844741;M1;53844742-53844794 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 135 | 230 | 95 | -1.300000 | -2.300000 | - | 1 | 3 | 157 | Unknown | 1.02436572612 |
4635.90991479,5807.84483542 |
0.000000 |
| 1132 | mutation | K.VFGVLED:YSPTLLADIYMDSDYRK.Q | C | Y | 63 | 8 | 1 | PCTP | I3L2M9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L2M9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 53844716-53844741;M1;53844742-53844794 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 135 | 230 | 95 | -1.300000 | -2.300000 | - | 1 | 3 | 157 | Unknown | 1.02436572612 |
4635.90991479,5807.84483542 |
0.000000 |
| 1132 | mutation | K.VFGVLED:YSPTLLADIYMDSDYRK.Q | C | Y | 63 | 8 | 1 | PCTP | Q9UKL6 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Lipid-transport;-Lipid-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transport. | Intracellular | Atlas | chr17 | 53844716-53844741;M1;53844742-53844794 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 135 | 230 | 95 | -1.300000 | -2.300000 | - | 1 | 3 | 157 | Unknown | 1.02436572612 |
4635.90991479,5807.84483542 |
0.000000 |
| 1133 | mutation | R.LQEL:TPSSG:DPGEHDPASTHK.S | P | L | 358 | 4 | 1 | TRIM25 | Q14258 | 3D-structure;-Acetylation;-Antiviral-defense;-Coiled-coil;Complete-proteome;-Cytoplasm;-Host-virus-interaction;-Immunity;Innate-immunity;-Isopeptide-bond;-Ligase;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase;Ubl-conjugation;-Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr17 | 54976500-54976541;54978779-54978793;M1;54978794-54978807 | 2 | 1 | 105 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs205498). | 1 | 49 | 5007 | Unknown | 3.95563840518 |
1497.47584334,5807.84483542 |
1.292481 |
| 1134 | mutation | K.A:CSPASLSQASADLE:ATLR.H | T | A | 185 | 1 | 1 | TRIM25 | Q14258 | 3D-structure;-Acetylation;-Antiviral-defense;-Coiled-coil;Complete-proteome;-Cytoplasm;-Host-virus-interaction;-Immunity;Innate-immunity;-Isopeptide-bond;-Ligase;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase;Ubl-conjugation;-Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr17 | 54985909-54985924;54990752-54990796;M1;54990797-54990800 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 2 | 171 | Unknown | 3.95563840518 |
1497.47584334,5807.84483542 |
0.000000 |
| 1135 | mutation | R.A:TFQIISQVISEATEQVLATTVGK.V | A | T | 348 | 2 | 1 | AKAP1 | Q92667 | Alternative-splicing;-Complete-proteome;-Membrane;-Mitochondrion;Mitochondrion-outer-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-Transit-peptide;-Transmembrane. | Intracellular | Atlas | chr17 | 55183860-55183866;M1;55183867-55183938 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 109 | Unknown | -0.165030901895 |
6011.86031127,5807.84483542 |
0.000000 |
| 1137 | mutation | K.MDLPGVSIADEGETGMFSLC:TIR.G | S | C | 424 | 20 | 1 | FTSJ3 | Q8IY81 | Citrullination;-Coiled-coil;-Complete-proteome;-Methyltransferase;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Ribosome-biogenesis;-rRNA-processing;-S-adenosyl-L-methionine; | Intracellular | Atlas | chr17 | 61901182-61901196;M1;61901197-61901257 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | S->C(indbSNP:rs2727288). | 1 | 45 | 4938 | Unknown | 2.23729399182 |
3197.82627097,5807.84483542 |
2.228249 |
| 1138 | mutation | V.DLVPIKPLPNVVTLQE:DITTER.C | Q | E | 91 | 16 | 1 | FTSJ3 | Q8IY81 | Citrullination;-Coiled-coil;-Complete-proteome;-Methyltransferase;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Ribosome-biogenesis;-rRNA-processing;-S-adenosyl-L-methionine; | Intracellular | Atlas | chr17 | 61903421-61903444;M1;61903445-61903493 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | Q->E(indbSNP:rs2584625). | 27 | 47 | 3949 | Unknown | 2.23729399182 |
3197.82627097,5807.84483542 |
2.149150 |
| 1138 | mutation | V.DLVPIKPLPNVVTLQE:DITTER.C | Q | E | 91 | 16 | 1 | FTSJ3 | J3KS36 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KS36,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 61903421-61903444;M1;61903445-61903493 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 27 | 47 | 3949 | Unknown | 2.23729399182 |
3197.82627097,5807.84483542 |
2.149150 |
| 1138 | mutation | V.DLVPIKPLPNVVTLQE:DITTER.C | Q | E | 91 | 16 | 1 | FTSJ3 | J3QSE2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSE2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 61903421-61903444;M1;61903445-61903493 | 1 | 1 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 27 | 47 | 3949 | Unknown | 2.23729399182 |
3197.82627097,5807.84483542 |
2.149150 |
| 1139 | mutation | K.EQLVT:FLENVLK.T | A | T | 169 | 5 | 1 | POLG2 | Q9UHN1 | 3D-structure;-Complete-proteome;-Disease-mutation;-DNA-replication;DNA-binding;-DNA-directed-DNA-polymerase;-Mitochondrion;Progressive-external-ophthalmoplegia;-Reference-proteome;-Transferase; | Intracellular | Atlas | chr17 | 62492555-62492581;M1;62492582-62492597 | 2 | 0 | 8 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1427463). | 1 | 14 | 410 | Unknown | -0.194448529695 |
6065.34857773,5807.84483542 |
2.904749 |
| 1140 | mutation | K.ATFGCHDGYSLDA:PEEIECTK.L | G | A | 242 | 13 | 1 | APOH | P02749 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr17 | 64212936-64212964;M1;64212965-64213005 | 1 | 0 | 21 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 43 | 1 | 2 | Unknown | 4.78159958227 |
921.313746232,5807.84483542 |
0.000000 |
| 1140 | mutation | K.ATFGCHDGYSLDA:PEEIECTK.L | G | A | 67 | 13 | 1 | APOH | J3KS17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Proteomics-identification-{ECO:0000213|MaxQB:J3KS17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 64212936-64212964;M1;64212965-64213005 | 1 | 0 | 21 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 43 | 1 | 2 | Unknown | 4.78159958227 |
921.313746232,5807.84483542 |
0.000000 |
| 1140 | mutation | K.ATFGCHDGYSLDA:PEEIECTK.L | G | A | 182 | 13 | 1 | APOH | J3QLI0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Proteomics-identification-{ECO:0000213|MaxQB:J3QLI0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 64212936-64212964;M1;64212965-64213005 | 1 | 0 | 21 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 43 | 1 | 2 | Unknown | 4.78159958227 |
921.313746232,5807.84483542 |
0.000000 |
| 1141 | mutation | R.ILS:AQGTEPLVLFK.E | V | A | 134 | 4 | 1 | NOL11 | J3QLQ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QLQ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 65717511-65717524;M1;65717525-65717559 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 1 | 136 | Unknown | 1.45156923912 |
4027.78237499,5807.84483542 |
0.000000 |
| 1141 | mutation | R.ILS:AQGTEPLVLFK.E | V | A | 115 | 4 | 1 | NOL11 | Q9H8H0 | Activator;-Alternative-splicing;-Complete-proteome;-Nucleus;Polymorphism;-Reference-proteome;-rRNA-processing;-Transcription; | Intracellular | Atlas | chr17 | 65717511-65717524;M1;65717525-65717559 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs2291284). | 6 | 1 | 136 | Unknown | 1.45156923912 |
4027.78237499,5807.84483542 |
0.000000 |
| 1142 | mutation | R.DAMWELLT:SESTNHSWDVLCR.R | N | S | 392 | 9 | 1 | COG1 | Q8WTW3 | Acetylation;-Complete-proteome;-Congenital-disorder-of-glycosylation;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr17 | 71196780-71196808;M1;71196809-71196849 | 2 | 7 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs1026128). | 1 | 40 | 2551 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
1.951360 |
| 1142 | mutation | R.DAMWELLT:SESTNHSWDVLCR.R | N | S | 392 | 9 | 1 | COG1 | E9PBL8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PBL8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 71196780-71196808;M1;71196809-71196849 | 2 | 7 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 40 | 2551 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
1.951360 |
| 1142 | mutation | R.DAMWELLT:SESTNHSWDVLCR.R | N | S | 392 | 9 | 1 | COG1 | A0A087WVI0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVI0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 71196780-71196808;M1;71196809-71196849 | 2 | 7 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 40 | 2551 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
1.951360 |
| 1143 | mutation | K.ELLVSALQEL:QSSTSNSPSNK.H | E | Q | 453 | 11 | 1 | COG1 | Q8WTW3 | Acetylation;-Complete-proteome;-Congenital-disorder-of-glycosylation;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr17 | 71197289-71197322;M1;71197323-71197358 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 13 | 1036 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
3.604727 |
| 1143 | mutation | K.ELLVSALQEL:QSSTSNSPSNK.H | E | Q | 453 | 11 | 1 | COG1 | E9PBL8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PBL8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 71197289-71197322;M1;71197323-71197358 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 13 | 1036 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
3.604727 |
| 1143 | mutation | K.ELLVSALQEL:QSSTSNSPSNK.H | E | Q | 453 | 11 | 1 | COG1 | A0A087WVI0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVI0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 71197289-71197322;M1;71197323-71197358 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 13 | 1036 | Unknown | 0.869383601464 |
4909.58948599,5807.84483542 |
3.604727 |
| 1144 | mutation | R.SVDP:ESPAEASGLR.A | D | E | 185 | 5 | 1 | SLC9A3R1 | O14745 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Cell-projection;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Wnt-signaling-pathway. | Intracellular | Atlas | chr17 | 72758246-72758263;M1;72758264-72758294 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.92447402865 |
1503.12195825,5807.84483542 |
0.000000 |
| 1145 | mutation | R.DVTVPELQ:EAYHAVVL:SYGAEDHR.A | R | Q | 123 | 8 | 1 | FDXR | P22570 | Alternative-splicing;-Cholesterol-metabolism;-Complete-proteome;Electron-transport;-FAD;-Flavoprotein;-Lipid-metabolism;Mitochondrion;-NADP;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Steroid-metabolism;-Sterol-metabolism;Transit-peptide;-Transport. | Intracellular | Atlas | chr17 | 72862339-72862366;72862567-72862592;M1;72862593-72862618 | 2 | 2 | 15 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs690514). | 1 | 18 | 759 | Unknown | 3.07242720603 |
2242.01675467,5807.84483542 |
2.194988 |
| 1146 | mutation | K.YANEVD:SDAGAFK.N | N | D | 497 | 6 | 1 | SRP68 | Q9UHB9 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Nucleus;-Phosphoprotein;-Reference-proteome;Ribonucleoprotein;-RNA-binding;-Signal-recognition-particle. | Intracellular | Atlas | chr17 | 74039918-74039944;M1;74039945-74039963 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 226 | Unknown | 3.10115150114 |
2245.6411495,5807.84483542 |
0.000000 |
| 1147 | mutation | K.RLNEGSSAMANG:VEEK.E | M | V | 576 | 13 | 1 | SEPT9 | Q9UHD8 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-cycle;Cell-division;-Chromosomal-rearrangement;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-GTP-binding;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr17 | 75494665-75494704;M1;75494705-75494719 | 2 | 1 | 35 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs2627223). | 1 | 63 | 15436 | Unknown | - |
- |
0.000000 |
| 1148 | mutation | R.YYPC:QSFQTPQHPSFLFQDK.R | Y | C | 458 | 4 | 1 | LGALS3BP | Q08380 | 3D-structure;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Extracellular-matrix;Glycoprotein;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr17 | 76967990-76968042;M1;76968043-76968056 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 34 | 8494 | Unknown | 4.38012774986 |
1197.75206922,5807.84483542 |
0.000000 |
| 1149 | mutation | R.APSPLYSVEFSEEPFGVIV:HR.Q | R | H | 223 | 20 | 1 | GAA | P10253 | Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycogen-storage-disease;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr17 | 78079607-78079668;M1;78079669-78079676 | 8 | 6 | 333 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1042395). | 1 | 57 | 9746 | Unknown | 3.15415119896 |
2178.07928056,5807.84483542 |
0.000000 |
| 1149 | mutation | R.APSPLYSVEFSEEPFGVIV:HR.Q | R | H | 223 | 20 | 1 | GAA | I3L3L3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L3L3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr17 | 78079607-78079668;M1;78079669-78079676 | 8 | 6 | 333 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 57 | 9746 | Targetable-Peptide | 3.15415119896 |
2178.07928056,5807.84483542 |
0.000000 |
| 1150 | mutation | R.EPAIHSEGQW:VTLPAPLDTIN:IHLR.A | V | I | 816 | 22 | 1 | GAA | P10253 | Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycogen-storage-disease;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr17 | 78091446-78091481;M1;78091482-78091512;M1;78091513-78091527 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs1800314). | 3 | 7 | 1966 | Unknown | 3.15415119896 |
2178.07928056,5807.84483542 |
0.000000 |
| 1151 | mutation | K.VTVLGVATAPQQVLSNGVPVSNF:IYSPDTK:.V | T | I | 927 | 24 | 1 | GAA | P10253 | Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycogen-storage-disease;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr17 | 78092511-78092584;M1;78092585-78092604;78093070-78093073 | 2 | 3 | 5 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(lossofglycosylationsite; | 1 | 3 | 742 | Unknown | 3.15415119896 |
2178.07928056,5807.84483542 |
0.000000 |
| 1152 | mutation | R.TADNF:DDILK.H | N | D | 1045 | 6 | 1 | RNF213 | Q63HN8 | Alternative-splicing;-Angiogenesis;-Chromosomal-rearrangement;Coiled-coil;-Complete-proteome;-Cytoplasm;-Disease-mutation;Hydrolase;-Isopeptide-bond;-Ligase;-Metal-binding;-Phosphoprotein;Proto-oncogene;-Reference-proteome;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr17 | 78298919-78298937;M1;78298938-78298955 | 2 | 0 | 68 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 66 | 2077 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
2.636588 |
| 1153 | mutation | K.IMCTVDHQ:GQR.D | D | G | 1331 | 9 | 1 | RNF213 | Q63HN8 | Alternative-splicing;-Angiogenesis;-Chromosomal-rearrangement;Coiled-coil;-Complete-proteome;-Cytoplasm;-Disease-mutation;Hydrolase;-Isopeptide-bond;-Ligase;-Metal-binding;-Phosphoprotein;Proto-oncogene;-Reference-proteome;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr17 | 78306251-78306279;M1;78306280-78306290 | 1 | 0 | 7 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 19 | 64 | 2757 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
3.174523 |
| 1153 | mutation | K.IMCTVDHQ:GQR.D | D | G | 1380 | 9 | 1 | RNF213 | A0A0A0MTC1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTC1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 78306251-78306279;M1;78306280-78306290 | 1 | 0 | 7 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 19 | 64 | 2757 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
3.174523 |
| 1153 | mutation | K.IMCTVDHQ:GQR.D | D | G | 1331 | 9 | 1 | RNF213 | A0A0A0MTR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 78306251-78306279;M1;78306280-78306290 | 1 | 0 | 7 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 19 | 64 | 2757 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
3.174523 |
| 1154 | mutation | R.:VLQEQHQLSSR:.R | L | V | 4649 | 1 | 1 | RNF213 | Q63HN8 | Alternative-splicing;-Angiogenesis;-Chromosomal-rearrangement;Coiled-coil;-Complete-proteome;-Cytoplasm;-Disease-mutation;Hydrolase;-Isopeptide-bond;-Ligase;-Metal-binding;-Phosphoprotein;Proto-oncogene;-Reference-proteome;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr17 | 78355490-78355493;M1;78355494-78355527;78356778-78356780 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 14 | 14 | 2443 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
1.000000 |
| 1154 | mutation | R.:VLQEQHQLSSR:.R | L | V | 4698 | 1 | 1 | RNF213 | A0A0A0MTC1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTC1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 78355490-78355493;M1;78355494-78355527;78356778-78356780 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 14 | 14 | 2443 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
1.000000 |
| 1154 | mutation | R.:VLQEQHQLSSR:.R | L | V | 4649 | 1 | 1 | RNF213 | A0A0A0MTR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 78355490-78355493;M1;78355494-78355527;78356778-78356780 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 14 | 14 | 2443 | Unknown | 2.20360103912 |
3223.30527878,5807.84483542 |
1.000000 |
| 1157 | mutation | K.IQDVGLVPMGGVM:PGAVPAAAAQE:AVEEDIPIAK.E | S | P | 105 | 14 | 3 | MRPL12 | F6QW41 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79671671-79671713;M1;79671714-79671746;79673935-79673968 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 1 | 4 | 995 | Unknown | 3.58807019462 |
1733.98149676,5807.84483542 |
0.000000 |
| 1157 | mutation | K.IQDVGLVPMGGVM:PGAVPAAAAQE:AVEEDIPIAK.E | S | P | 105 | 14 | 3 | MRPL12 | P52815 | Acetylation;-Complete-proteome;-Mitochondrion;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein; | Intracellular | Atlas | chr17 | 79671671-79671713;M1;79671714-79671746;79673935-79673968 | 1 | 3 | 3 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs11546280). | 1 | 4 | 995 | Unknown | 3.58807019462 |
1733.98149676,5807.84483542 |
0.000000 |
| 1158 | mutation | R.ITEFCHG:FLEGK.I | R | G | 194 | 7 | 1 | P4HB | I3L398 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L398,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79804307-79804327;M1;79804328-79804349 | 1 | 8 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 5 | 1 | 250 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1158 | mutation | R.ITEFCHG:FLEGK.I | R | G | 301 | 7 | 1 | P4HB | H7BZ94 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00434929};Proteomics-identification-{ECO:0000213|EPD:H7BZ94,Redox-active-center-{ECO:0000256|SAAS:SAAS00435004};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 79804307-79804327;M1;79804328-79804349 | 1 | 8 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 5 | 1 | 250 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1158 | mutation | R.ITEFCHG:FLEGK.I | R | G | 111 | 7 | 1 | P4HB | H0Y3Z3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y3Z3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 79804307-79804327;M1;79804328-79804349 | 1 | 8 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 5 | 1 | 250 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1158 | mutation | R.ITEFCHG:FLEGK.I | R | G | 345 | 7 | 1 | P4HB | P07237 | 3D-structure;-Acetylation;-Cell-membrane;-Chaperone;Complete-proteome;-Craniosynostosis;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Endoplasmic-reticulum;-Isomerase;Membrane;-Osteogenesis-imperfecta;-Phosphoprotein;Redox-active-center;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr17 | 79804307-79804327;M1;79804328-79804349 | 1 | 8 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 5 | 1 | 250 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1159 | mutation | K.:ILFIFIDSDHTDD:QR.I | N | D | 147 | 13 | 1 | P4HB | I3L398 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L398,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79804457-79804468;M1;79804469-79804505;79804822-79804825 | 2 | 7 | 41 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 750 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1159 | mutation | K.:ILFIFIDSDHTDD:QR.I | N | D | 254 | 13 | 1 | P4HB | H7BZ94 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00434929};Proteomics-identification-{ECO:0000213|EPD:H7BZ94,Redox-active-center-{ECO:0000256|SAAS:SAAS00435004};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 79804457-79804468;M1;79804469-79804505;79804822-79804825 | 2 | 7 | 41 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 750 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1159 | mutation | K.:ILFIFIDSDHTDD:QR.I | N | D | 101 | 13 | 1 | P4HB | I3L4M2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4M2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79804457-79804468;M1;79804469-79804505;79804822-79804825 | 2 | 7 | 41 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 750 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1159 | mutation | K.:ILFIFIDSDHTDD:QR.I | N | D | 64 | 13 | 1 | P4HB | H0Y3Z3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y3Z3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr17 | 79804457-79804468;M1;79804469-79804505;79804822-79804825 | 2 | 7 | 41 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 750 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1159 | mutation | K.:ILFIFIDSDHTDD:QR.I | N | D | 298 | 13 | 1 | P4HB | P07237 | 3D-structure;-Acetylation;-Cell-membrane;-Chaperone;Complete-proteome;-Craniosynostosis;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Endoplasmic-reticulum;-Isomerase;Membrane;-Osteogenesis-imperfecta;-Phosphoprotein;Redox-active-center;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr17 | 79804457-79804468;M1;79804469-79804505;79804822-79804825 | 2 | 7 | 41 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 750 | Unknown | 6.1796735206 |
600.027411667,5807.84483542 |
0.000000 |
| 1160 | mutation | R.GTVQALHATGAP:VVAVSR.T | R | P | 33 | 12 | 1 | DCXR | Q7Z4W1 | 3D-structure;-Acetylation;-Carbohydrate-metabolism;-Complete-proteome;Direct-protein-sequencing;-Glucose-metabolism;-Membrane;-NADP;Oxidoreductase;-Phosphoprotein;-Reference-proteome;-Xylose-metabolism. | Intracellular | Atlas | chr17 | 79995355-79995377;M1;79995378-79995415 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Unknown | 3.81007822112 |
1554.21641727,5807.84483542 |
0.000000 |
| 1160 | mutation | R.GTVQALHATGAP:VVAVSR.T | R | P | 32 | 12 | 1 | DCXR | J3QS36 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QS36,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79995355-79995377;M1;79995378-79995415 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Unknown | 3.81007822112 |
1554.21641727,5807.84483542 |
0.000000 |
| 1160 | mutation | R.GTVQALHATGAP:VVAVSR.T | R | P | 31 | 12 | 1 | DCXR | J3KS22 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KS22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 79995355-79995377;M1;79995378-79995415 | 1 | 4 | 3 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 3 | 1 | 250 | Unknown | 3.81007822112 |
1554.21641727,5807.84483542 |
0.000000 |
| 1161 | mutation | K.TGGAYGEDLGT:DYNLSQ:VCDGK.V | A | T | 2460 | 11 | 1 | FASN | P49327 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Fatty-acid-biosynthesis;Fatty-acid-metabolism;-Hydrolase;-Isopeptide-bond;-Lipid-biosynthesis;Lipid-metabolism;-Lyase;-Multifunctional-enzyme;-NAD;-NADP;Oxidoreductase;-Phosphopantetheine;-Phosphoprotein;-Polymorphism;Pyridoxal-phosphate;-Reference-proteome;-Transferase;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 80037138-80037156;80037232-80037252;M1;80037253-80037286 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 249 | Unknown | 3.66754700935 |
1705.55883002,5807.84483542 |
0.000000 |
| 1161 | mutation | K.TGGAYGEDLGT:DYNLSQ:VCDGK.V | A | T | 2458 | 11 | 1 | FASN | A0A0U1RQF0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQF0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80037138-80037156;80037232-80037252;M1;80037253-80037286 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 1 | 249 | Unknown | 3.66754700935 |
1705.55883002,5807.84483542 |
0.000000 |
| 1162 | mutation | R.:CVLLSNLSSTSHI:PEVDPGSAELQK.V | V | I | 1483 | 13 | 1 | FASN | P49327 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Fatty-acid-biosynthesis;Fatty-acid-metabolism;-Hydrolase;-Isopeptide-bond;-Lipid-biosynthesis;Lipid-metabolism;-Lyase;-Multifunctional-enzyme;-NAD;-NADP;Oxidoreductase;-Phosphopantetheine;-Phosphoprotein;-Polymorphism;Pyridoxal-phosphate;-Reference-proteome;-Transferase;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 80042750-80042791;M1;80042792-80042829;80042910-80042912 | 1 | 2 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2228305). | 1 | 5 | 799 | Unknown | 3.66754700935 |
1705.55883002,5807.84483542 |
1.000000 |
| 1162 | mutation | R.:CVLLSNLSSTSHI:PEVDPGSAELQK.V | V | I | 1481 | 13 | 1 | FASN | A0A0U1RQF0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQF0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80042750-80042791;M1;80042792-80042829;80042910-80042912 | 1 | 2 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 5 | 799 | Unknown | 3.66754700935 |
1705.55883002,5807.84483542 |
1.000000 |
| 1163 | mutation | R.IIQTAQTTPVQTVTIVQQAPLGQHQLP:VK.T | I | V | 71 | 28 | 1 | FOXK2 | I3L4U8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4U8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80544991-80545075;M1;80545076-80545084 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 3 | 678 | Unknown | -0.947275842242 |
6947.27405602,5807.84483542 |
0.000000 |
| 1163 | mutation | R.IIQTAQTTPVQTVTIVQQAPLGQHQLP:VK.T | I | V | 572 | 28 | 1 | FOXK2 | Q01167 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Magnesium;-Metal-binding;-Nucleus;Phosphoprotein;-Reference-proteome;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr17 | 80544991-80545075;M1;80545076-80545084 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 3 | 678 | Unknown | -0.947275842242 |
6947.27405602,5807.84483542 |
0.000000 |
| 1163 | mutation | R.IIQTAQTTPVQTVTIVQQAPLGQHQLP:VK.T | I | V | 568 | 28 | 1 | FOXK2 | A0A087WXM0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXM0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80544991-80545075;M1;80545076-80545084 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 3 | 678 | Unknown | -0.947275842242 |
6947.27405602,5807.84483542 |
0.000000 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 617 | 12 | 1 | TBCD | J3KR97 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KR97,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 55 | 12 | 1 | TBCD | I3L4D2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4D2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 123 | 12 | 1 | TBCD | I3L0V3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L0V3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 55 | 12 | 1 | TBCD | I3L163 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L163,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 55 | 12 | 1 | TBCD | I3L131 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L131,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 103 | 12 | 1 | TBCD | I3L143 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L143,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 76 | 12 | 1 | TBCD | I3L500 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L500,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 617 | 12 | 1 | TBCD | Q9BTW9 | Alternative-splicing;-Cell-junction;-Cell-membrane;-Chaperone;Complete-proteome;-Cytoplasm;-GTPase-activation;-Membrane;Polymorphism;-Reference-proteome;-Repeat;-Tight-junction. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->T(indbSNP:rs2292971). | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 55 | 12 | 1 | TBCD | I3L3H4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L3H4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1164 | mutation | R.LLSMTLSPDLH:TR.H | M | T | 55 | 12 | 1 | TBCD | I3L439 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L439,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr17 | 80863819-80863856;M1;80863857-80863864 | 1 | 0 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 42 | 42 | 5284 | Unknown | 2.15760404605 |
3314.103511,5807.84483542 |
1.990071 |
| 1165 | mutation | R.FA:CNTCPYVHNITR.K | S | A | 24 | 2 | 2 | POLR3K | Q9Y2Y1 | Antiviral-defense;-Complete-proteome;-DNA-directed-RNA-polymerase;Immunity;-Innate-immunity;-Metal-binding;-Nucleus;-Polymorphism;Reference-proteome;-Transcription;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr16 | 103475-103516;M1;103517-103523 | 2 | 0 | 25 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs183360). | 6 | 67 | 9411 | Unknown | 0.404197648919 |
5136.94642398,5807.84483542 |
1.000000 |
| 1166 | mutation | K.TY:CPHFDLSH.G | F | C | 44 | 3 | 1 | HBA1 | P69905 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Glycation;-Glycoprotein;Heme;-Hereditary-hemolytic-anemia;-Iron;-Metal-binding;Oxygen-transport;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr16 | 226952-226962;M1;226963-226988 | 2 | 34 | 482 | 1 | 0 | 0 | 0 | 210 | 135 | -75 | Hydrophobic;2.500000 | -1.000000 | F->L(inHirosaki;unstable). | 40 | 1 | 109 | Unknown | 10.1724442739 |
169.320149503,5807.84483542 |
0.000000 |
| 1167 | mutation | R.ELAEEFGVTEYP:R.L | T | R | 116 | 13 | 1 | PDIA2 | H0Y4J5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0Y4J5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 334502-334542;M1;334543-334547 | 1 | 2 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 15 | 396 | Unknown | -0.729114731701 |
6295.6733428,5807.84483542 |
1.194988 |
| 1167 | mutation | R.ELAEEFGVTEYP:R.L | T | R | 119 | 13 | 1 | PDIA2 | Q13087 | Alternative-splicing;-Chaperone;-Complete-proteome;-Disulfide-bond;Endoplasmic-reticulum;-Glycoprotein;-Isomerase;-Lipid-binding;Polymorphism;-Redox-active-center;-Reference-proteome;-Repeat;-Signal; | Intracellular | Atlas | chr16 | 334502-334542;M1;334543-334547 | 1 | 2 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | T->R(indbSNP:rs45614840). | 1 | 15 | 396 | Unknown | -0.729114731701 |
6295.6733428,5807.84483542 |
1.194988 |
| 1168 | mutation | K.HQ:EEAFTAFTPAPEDSLASVPYPPLLR.A | E | Q | 153 | 2 | 1 | MRPS34 | C9JJ19 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JJ19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 1822362-1822442;M1;1822443-1822449 | 1 | 3 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 2.53373388497 |
2777.42979785,5807.84483542 |
0 |
| 1168 | mutation | K.HQ:EEAFTAFTPAPEDSLASVPYPPLLR.A | E | Q | 146 | 2 | 1 | MRPS34 | P82930 | 3D-structure;-Complete-proteome;-Mitochondrion;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr16 | 1822362-1822442;M1;1822443-1822449 | 1 | 3 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 2.53373388497 |
2777.42979785,5807.84483542 |
0 |
| 1169 | mutation | R.AEGPVAVVVNGHT:EGPAPAR.S | M | T | 145 | 13 | 1 | ZNF598 | H3BR87 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BR87,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2049614-2049639;M1;2049640-2049680 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 15 | 62 | 9929 | Unknown | -0.528083054104 |
6375.31927238,5807.84483542 |
0.000000 |
| 1169 | mutation | R.AEGPVAVVVNGHT:EGPAPAR.S | M | T | 582 | 13 | 1 | ZNF598 | H3BQQ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BQQ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2049614-2049639;M1;2049640-2049680 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 15 | 62 | 9929 | Unknown | -0.528083054104 |
6375.31927238,5807.84483542 |
0.000000 |
| 1171 | mutation | R.S:VILTS:DRPGVFSAGLDLTEMCGR.S | G | S | 93 | 1 | 1 | ECI1 | P42126 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Fatty-acid-metabolism;-Isomerase;Lipid-metabolism;-Mitochondrion;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr16 | 2294496-2294553;2296859-2296876;M1;2296877-2296880 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 243 | Unknown | 3.91797616284 |
1511.44106609,5807.84483542 |
0.000000 |
| 1171 | mutation | R.S:VILTS:DRPGVFSAGLDLTEMCGR.S | G | S | 34 | 1 | 1 | ECI1 | H3BS70 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BS70,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2294496-2294553;2296859-2296876;M1;2296877-2296880 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 243 | Unknown | 3.91797616284 |
1511.44106609,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 208 | 5 | 2 | RNPS1 | H3BTC0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BTC0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 185 | 5 | 2 | RNPS1 | H3BMS0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BMS0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 31 | 5 | 2 | RNPS1 | H3BPG5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BPG5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 114 | 5 | 2 | RNPS1 | H3BV80 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BV80,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 208 | 5 | 2 | RNPS1 | Q15287 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-mRNA-processing;-mRNA-splicing;Nonsense-mediated-mRNA-decay;-Nucleus;-Phosphoprotein;Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1172 | mutation | K.GYAYI:EFENPDEAEK.A | V | I | 208 | 5 | 2 | RNPS1 | H3BMM9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BMM9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2312297-2312332;M1;2312333-2312348 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 15 | 1 | 247 | Unknown | 2.55481983846 |
2821.04016173,5807.84483542 |
0.000000 |
| 1173 | mutation | K.AQTP:LGPSLSGSK.S | P | L | 1005 | 5 | 1 | SRRM2 | I3L4D8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L4D8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 2813526-2813542;M1;2813543-2813571 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 86 | Unknown | 0.5442025369 |
5301.204545,5807.84483542 |
0.000000 |
| 1173 | mutation | K.AQTP:LGPSLSGSK.S | P | L | 1005 | 5 | 1 | SRRM2 | Q9UQ35 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-mRNA-processing;-mRNA-splicing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-RNA-binding; | Intracellular | Atlas | chr16 | 2813526-2813542;M1;2813543-2813571 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 86 | Unknown | 0.5442025369 |
5301.204545,5807.84483542 |
0.000000 |
| 1174 | mutation | R.AMVGH:LNELLVK.A | R | H | 692 | 5 | 2 | TRAP1 | Q12931 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chaperone;-Complete-proteome;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr16 | 3708144-3708169;M1;3708170-3708186 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs2791). | 3 | 3 | 711 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1174 | mutation | R.AMVGH:LNELLVK.A | R | H | 47 | 5 | 2 | TRAP1 | I3L253 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L253,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 3708144-3708169;M1;3708170-3708186 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 3 | 711 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1174 | mutation | R.AMVGH:LNELLVK.A | R | H | 483 | 5 | 2 | TRAP1 | I3L0K7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L0K7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 3708144-3708169;M1;3708170-3708186 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 3 | 711 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1175 | mutation | R.NVLGSH:VTNVK:.V | R | H | 593 | 6 | 2 | TRAP1 | Q12931 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chaperone;-Complete-proteome;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr16 | 3712130-3712133;3712882-3712898;M1;3712899-3712918 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 243 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1175 | mutation | R.NVLGSH:VTNVK:.V | R | H | 384 | 6 | 2 | TRAP1 | I3L0K7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L0K7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 3712130-3712133;3712882-3712898;M1;3712899-3712918 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 243 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1176 | mutation | K.DVG:EWQHEEFYR.Y | R | G | 307 | 3 | 2 | TRAP1 | Q12931 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chaperone;-Complete-proteome;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr16 | 3724432-3724464;M1;3724465-3724474 | 2 | 3 | 72 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs13926). | 1 | 36 | 8582 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1176 | mutation | K.DVG:EWQHEEFYR.Y | R | G | 98 | 3 | 2 | TRAP1 | I3L239 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L239,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 3724432-3724464;M1;3724465-3724474 | 2 | 3 | 72 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 36 | 8582 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1176 | mutation | K.DVG:EWQHEEFYR.Y | R | G | 98 | 3 | 2 | TRAP1 | I3L0K7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L0K7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 3724432-3724464;M1;3724465-3724474 | 2 | 3 | 72 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 36 | 8582 | Unknown | 4.33743920597 |
1220.38746722,5807.84483542 |
0.000000 |
| 1177 | mutation | R.DGADIHSDLFISI:GQALLGGTAR.A | A | G | 355 | 14 | 2 | DNAJA3 | Q96EY1 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Cell-junction;-Cell-membrane;-Chaperone;-Complete-proteome;-Cytoplasm;Membrane;-Metal-binding;-Methylation;-Mitochondrion;-Phosphoprotein;Polymorphism;-Postsynaptic-cell-membrane;-Reference-proteome;-Repeat;Synapse;-Transit-peptide;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr16 | 4496910-4496953;M1;4496954-4496985 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 1 | 116 | Unknown | 2.22560538719 |
3171.4938162,5807.84483542 |
0.000000 |
| 1178 | mutation | R.LCASGAGAT:ADT:AIEEIK.E | P | A | 39 | 10 | 1 | NUBP1 | P53384 | 4Fe-4S;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-projection;-Cilium;-Cilium-biogenesis/degradation;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Iron;-Iron-sulfur;Metal-binding;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr16 | 10837882-10837912;M1;10837913-10837922;10840999-10841019 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs2233531). | 3 | 17 | 1318 | Unknown | 1.70811555652 |
3761.26971659,5807.84483542 |
0.000000 |
| 1178 | mutation | R.LCASGAGAT:ADT:AIEEIK.E | P | A | 39 | 10 | 1 | NUBP1 | I3L531 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L531,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 10837882-10837912;M1;10837913-10837922;10840999-10841019 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 17 | 1318 | Unknown | 1.70811555652 |
3761.26971659,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 1196 | 1 | 1 | NOMO1 | A0A087X117 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X117,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Unknown | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 1029 | 1 | 1 | NOMO1 | A0A0G2JP90 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JP90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Unknown | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 1029 | 1 | 1 | NOMO1 | A0A087WW46 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WW46,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Unknown | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 1196 | 1 | 1 | NOMO1 | A0A0G2JN29 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JN29,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Unknown | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 1196 | 1 | 1 | NOMO1 | Q15155 | Complete-proteome;-Glycoprotein;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Intra-Cellular-Peptide | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1180 | mutation | R.:VLGQAASDNSGPEDAK.R | A | V | 118 | 1 | 1 | NOMO1 | H3BUC9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BUC9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 14989415-14989419;M1;14989420-14989469 | 2 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 14 | 3295 | Unknown | -2.30116298651 |
8026.89638647,5807.84483542 |
0.000000 |
| 1181 | mutation | R.GSDALSET:NSVSHIEDLEK.V | S | N | 739 | 9 | 1 | PDXDC1 | H3BND4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BND4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 15129898-15129926;M1;15129927-15129961 | 1 | 3 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 113 | Unknown | 3.17012707454 |
2182.49315874,5807.84483542 |
0.000000 |
| 1181 | mutation | R.GSDALSET:NSVSHIEDLEK.V | S | N | 721 | 9 | 1 | PDXDC1 | Q6P996 | Alternative-splicing;-Complete-proteome;-Decarboxylase;-Lyase;Phosphoprotein;-Polymorphism;-Pyridoxal-phosphate;-Reference-proteome. | Intracellular | Atlas | chr16 | 15129898-15129926;M1;15129927-15129961 | 1 | 3 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 113 | Unknown | 3.17012707454 |
2182.49315874,5807.84483542 |
0.000000 |
| 1182 | mutation | K.QTLEKENT:DLAGELR.V | A | T | 1234 | 8 | 1 | MYH11 | P35749 | Actin-binding;-Alternative-splicing;-Aortic-aneurysm;-ATP-binding;Calmodulin-binding;-Chromosomal-rearrangement;-Coiled-coil;Complete-proteome;-Disease-mutation;-Methylation;-Motor-protein;Muscle-protein;-Myosin;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Proto-oncogene;-Reference-proteome;-Thick-filament. | Intracellular | Atlas | chr16 | 15820836-15820862;M1;15820863-15820887 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs16967494). | 1 | 19 | 355 | Unknown | 3.71190772454 |
1611.27398474,5807.84483542 |
2.333333 |
| 1182 | mutation | K.QTLEKENT:DLAGELR.V | A | T | 1241 | 8 | 1 | MYH11 | B1PS43 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467347,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Motor-protein-{ECO:0000256|SAAS:SAAS00476553};Proteomics-identification-{ECO:0000213|EPD:B1PS43,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 15820836-15820862;M1;15820863-15820887 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 19 | 355 | Unknown | 3.71190772454 |
1611.27398474,5807.84483542 |
2.333333 |
| 1183 | mutation | K.LQQLFNHTMFM:LEQEEYQR.E | I | M | 493 | 11 | 1 | MYH11 | P35749 | Actin-binding;-Alternative-splicing;-Aortic-aneurysm;-ATP-binding;Calmodulin-binding;-Chromosomal-rearrangement;-Coiled-coil;Complete-proteome;-Disease-mutation;-Methylation;-Motor-protein;Muscle-protein;-Myosin;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Proto-oncogene;-Reference-proteome;-Thick-filament. | Intracellular | Atlas | chr16 | 15851752-15851779;M1;15851780-15851815 | 1 | 0 | 14 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 27 | 1 | 2 | Unknown | 3.71190772454 |
1611.27398474,5807.84483542 |
0.000000 |
| 1183 | mutation | K.LQQLFNHTMFM:LEQEEYQR.E | I | M | 500 | 11 | 1 | MYH11 | B1PS43 | Coiled-coil-{ECO:0000256|SAAS:SAAS00467347,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Motor-protein-{ECO:0000256|SAAS:SAAS00476553};Proteomics-identification-{ECO:0000213|EPD:B1PS43,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 15851752-15851779;M1;15851780-15851815 | 1 | 0 | 14 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 27 | 1 | 2 | Unknown | 3.71190772454 |
1611.27398474,5807.84483542 |
0.000000 |
| 1184 | mutation | K.KFNELMV:MFR.V | T | M | 65 | 8 | 1 | COQ7 | H3BSZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BSZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 19085272-19085297;M1;19085298-19085308 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 9 | 64 | 4887 | Unknown | 2.11398581444 |
3267.86098704,5807.84483542 |
2.081976 |
| 1184 | mutation | K.KFNELMV:MFR.V | T | M | 103 | 8 | 1 | COQ7 | I3L1T0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L1T0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 19085272-19085297;M1;19085298-19085308 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 9 | 64 | 4887 | Unknown | 2.11398581444 |
3267.86098704,5807.84483542 |
2.081976 |
| 1184 | mutation | K.KFNELMV:MFR.V | T | M | 103 | 8 | 1 | COQ7 | Q99807 | Alternative-splicing;-Complete-proteome;-Disease-mutation;-Iron;Membrane;-Metal-binding;-Mitochondrion;-Mitochondrion-inner-membrane;Monooxygenase;-Oxidoreductase;-Polymorphism;-Reference-proteome;Repeat;-Transit-peptide;-Ubiquinone-biosynthesis. | Intracellular | Atlas | chr16 | 19085272-19085297;M1;19085298-19085308 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs11074359). | 9 | 64 | 4887 | Unknown | 2.11398581444 |
3267.86098704,5807.84483542 |
2.081976 |
| 1184 | mutation | K.KFNELMV:MFR.V | T | M | 65 | 8 | 1 | COQ7 | H3BTN8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BTN8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 19085272-19085297;M1;19085298-19085308 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 9 | 64 | 4887 | Unknown | 2.11398581444 |
3267.86098704,5807.84483542 |
2.081976 |
| 1184 | mutation | K.KFNELMV:MFR.V | T | M | 80 | 8 | 1 | COQ7 | H3BP28 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|HAMAP-Rule:MF_03194};Proteomics-identification-{ECO:0000213|EPD:H3BP28,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|HAMAP-Rule:MF_03194};Ubiquinone-biosynthesis-{ECO:0000256|HAMAP-Rule:MF_03194}. | Intracellular | Atlas | chr16 | 19085272-19085297;M1;19085298-19085308 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 9 | 64 | 4887 | Unknown | 2.11398581444 |
3267.86098704,5807.84483542 |
2.081976 |
| 1185 | mutation | R.NLLDLLSP:QPAPCPL:NYVSQK.S | A | P | 424 | 8 | 1 | GGA2 | Q9UJY4 | 3D-structure;-Complete-proteome;-Endosome;-Golgi-apparatus;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Transport;-Ubl-conjugation. | Intracellular | Atlas | chr16 | 23486360-23486382;23489688-23489710;M1;23489711-23489735 | 2 | 1 | 32 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | A->P(indbSNP:rs1135045). | 27 | 63 | 8158 | Unknown | 0.763302959892 |
5022.28859877,5807.84483542 |
1.000000 |
| 1186 | mutation | R.SLPEETVDFM:VQHTSFK.E | V | M | 223 | 10 | 1 | SULT1A1 | H3BRY5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BRY5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 28617458-28617484;M1;28617485-28617515 | 2 | 2 | 127 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 36 | 66 | 4247 | Unknown | 1.53167668217 |
4001.32848626,5807.84483542 |
3.173797 |
| 1186 | mutation | R.SLPEETVDFM:VQHTSFK.E | V | M | 223 | 10 | 1 | SULT1A1 | P50225 | 3D-structure;-Alternative-splicing;-Catecholamine-metabolism;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Lipid-metabolism;-Phosphoprotein;-Polymorphism;-Reference-proteome;Steroid-metabolism;-Transferase. | Intracellular | Atlas | chr16 | 28617458-28617484;M1;28617485-28617515 | 2 | 2 | 127 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs1801030). | 36 | 66 | 4247 | Unknown | 1.53167668217 |
4001.32848626,5807.84483542 |
3.173797 |
| 1187 | mutation | R.:LVNACLAEELPHN:HAFEQK.T | I | N | 67 | 13 | 3 | BOLA2 | Q9H3K6 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Reference-proteome. | Intracellular | Atlas | chr16 | 29464992-29465014;M1;29465015-29465053;29465336-29465338 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 175 | 160 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 228 | Unknown | - |
- |
0.000000 |
| 1187 | mutation | R.:LVNACLAEELPHN:HAFEQK.T | I | N | 133 | 13 | 3 | BOLA2 | A0A087WZT3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZT3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 29464992-29465014;M1;29465015-29465053;29465336-29465338 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 175 | 160 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 228 | Unknown | - |
- |
0.000000 |
| 1188 | mutation | K.YGLLVGGA:VSHR.Y | A | V | 158 | 9 | 2 | QPRT | Q15274 | 3D-structure;-Complete-proteome;-Glycosyltransferase;-Polymorphism;Pyridine-nucleotide-biosynthesis;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr16 | 29706415-29706443;M1;29706444-29706457 | 2 | 7 | 84 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs2303255). | 39 | 21 | 2495 | Unknown | 3.64203336083 |
1722.20353553,5807.84483542 |
0.000000 |
| 1189 | mutation | R.SGSLIDAIGLHWDVYP:TSCSR.C | S | T | 162 | 17 | 1 | ZG16 | O60844 | 3D-structure;-Complete-proteome;-Cytoplasmic-vesicle;Direct-protein-sequencing;-Extracellular-matrix;-Golgi-apparatus;Lectin;-Polymorphism;-Protein-transport;-Reference-proteome;-Secreted; | Intracellular | Atlas | chr16 | 29791668-29791720;M1;29791721-29791737 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs235638). | 6 | 21 | 49 | Unknown | 1.69674554333 |
4545.24427939,5807.84483542 |
0.000000 |
| 1190 | mutation | K.IGEH:SPSALAIMENANVLAR.Y | T | S | 158 | 5 | 1 | ALDOA | H3BQN4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:H3BQN4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080215-30080231;M1;30080232-30080281 | 1 | 12 | 13 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 1 | 218 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1190 | mutation | K.IGEH:SPSALAIMENANVLAR.Y | T | S | 158 | 5 | 1 | ALDOA | P04075 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;Glycogen-storage-disease;-Glycolysis;-Hereditary-hemolytic-anemia;Isopeptide-bond;-Lyase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Schiff-base;-Ubl-conjugation. | Intracellular | Atlas | chr16 | 30080215-30080231;M1;30080232-30080281 | 1 | 12 | 13 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 1 | 218 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1190 | mutation | K.IGEH:SPSALAIMENANVLAR.Y | T | S | 212 | 5 | 1 | ALDOA | H3BPS8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BPS8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080215-30080231;M1;30080232-30080281 | 1 | 12 | 13 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 1 | 218 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1190 | mutation | K.IGEH:SPSALAIMENANVLAR.Y | T | S | 103 | 5 | 1 | ALDOA | H3BU78 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:H3BU78,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080215-30080231;M1;30080232-30080281 | 1 | 12 | 13 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 1 | 218 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1190 | mutation | K.IGEH:SPSALAIMENANVLAR.Y | T | S | 158 | 5 | 1 | ALDOA | J3KPS3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:J3KPS3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080215-30080231;M1;30080232-30080281 | 1 | 12 | 13 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 1 | 218 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1191 | mutation | I.CQQVG:MQ:NGIVPIVEPEILPDGDHDLK.R | L | M | 183 | 6 | 1 | ALDOA | J3KPS3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lyase-{ECO:0000256|RuleBase:RU003994,-ECO:0000256|SAAS:SAAS00415476};Proteomics-identification-{ECO:0000213|EPD:J3KPS3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 30080287-30080305;M1;30080306-30080311;30080626-30080689 | 1 | 10 | 2 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 56 | Unknown | 6.9597993225 |
519.065843548,5807.84483542 |
0.000000 |
| 1192 | mutation | R.IS:PFNLQEEMEEGHFDADGNYFLNR.D | T | S | 88 | 2 | 1 | CD2BP2 | O95400 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;mRNA-processing;-mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr16 | 30365260-30365334;M1;30365335-30365341 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 2 | 460 | Unknown | 1.97825272301 |
3442.84425706,5807.84483542 |
0.000000 |
| 1193 | mutation | K.FDVQFPENNWINT:DK.L | P | T | 345 | 13 | 1 | DNAJA2 | O60884 | Acetylation;-Chaperone;-Complete-proteome;-Lipoprotein;-Membrane;Metal-binding;-Methylation;-Phosphoprotein;-Prenylation;Reference-proteome;-Repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr16 | 46992917-46992928;M1;46992929-46992968 | 1 | 3 | 5 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 12 | 1 | 248 | Unknown | 3.7878111139 |
1611.61623726,5807.84483542 |
0.000000 |
| 1194 | mutation | H.STFFDGIACVVAGLPS:IVSR.N | M | I | 21 | 17 | 1 | LPCAT2 | H3BU68 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BU68,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 55562412-55562465;M1;55562466-55562478 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 50 | 1687 | Unknown | 1.48425125909 |
4071.76901376,5807.84483542 |
1.233985 |
| 1194 | mutation | H.STFFDGIACVVAGLPS:IVSR.N | M | I | 163 | 17 | 1 | LPCAT2 | Q7L5N7 | Acyltransferase;-Alternative-splicing;-Calcium;-Complete-proteome;Endoplasmic-reticulum;-Golgi-apparatus;-Lipid-biosynthesis;Lipid-droplet;-Lipid-metabolism;-Membrane;-Metal-binding;Phospholipid-biosynthesis;-Phospholipid-metabolism;-Polymorphism;Reference-proteome;-Repeat;-Signal-anchor;-Transferase;-Transmembrane; | Membrane-Bound | Atlas | chr16 | 55562412-55562465;M1;55562466-55562478 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | M->I(indbSNP:rs837550). | 3 | 50 | 1687 | Lumenal | 1.48425125909 |
4071.76901376,5807.84483542 |
1.233985 |
| 1195 | mutation | R.FTPPQPAEPWN:FVK.N | S | N | 75 | 11 | 1 | CES1 | P23141 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Glycoprotein;-Hydrolase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Serine-esterase;-Signal. | Intracellular | Atlas | chr16 | 55862698-55862711;M1;55862712-55862746 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs2307240). | 9 | 7 | 400 | Unknown | 0.159158077108 |
5570.19016111,5807.84483542 |
0.000000 |
| 1196 | mutation | R.VN:NAMNMGHTAK.Q | D | N | 168 | 3 | 1 | COQ9 | H3BRC0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BRC0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 57493590-57493599;M1;57493600-57493632 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 7 | 1 | 194 | Unknown | 2.92065512615 |
2403.746883,5807.84483542 |
0.000000 |
| 1196 | mutation | R.VN:NAMNMGHTAK.Q | D | N | 279 | 3 | 1 | COQ9 | O75208 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Lipid-binding;-Mitochondrion;-Reference-proteome;-Transit-peptide; | Intracellular | Atlas | chr16 | 57493590-57493599;M1;57493600-57493632 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 7 | 1 | 194 | Unknown | 2.92065512615 |
2403.746883,5807.84483542 |
0.000000 |
| 1196 | mutation | R.VN:NAMNMGHTAK.Q | D | N | 283 | 3 | 1 | COQ9 | H3BNT2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BNT2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 57493590-57493599;M1;57493600-57493632 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 7 | 1 | 194 | Unknown | 2.92065512615 |
2403.746883,5807.84483542 |
0.000000 |
| 1196 | mutation | R.VN:NAMNMGHTAK.Q | D | N | 244 | 3 | 1 | COQ9 | H3BSJ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BSJ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 57493590-57493599;M1;57493600-57493632 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 7 | 1 | 194 | Unknown | 2.92065512615 |
2403.746883,5807.84483542 |
0.000000 |
| 1197 | mutation | K.IPEQSVLLLHACAHNPTGVDPH:PEQWK.E | R | H | 222 | 22 | 1 | GOT2 | P00505 | 3D-structure;-Acetylation;-Alternative-splicing;-Aminotransferase;Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Lipid-transport;-Membrane;-Mitochondrion;-Nitration;-Phosphoprotein;Polymorphism;-Pyridoxal-phosphate;-Reference-proteome;-Transferase;Transit-peptide;-Transport. | Intracellular | Atlas | chr16 | 58752117-58752136;M1;58752137-58752204 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 15 | 376 | Unknown | 4.81019113548 |
984.210772983,5807.84483542 |
0.000000 |
| 1198 | mutation | K.TCS:FDFTGAVEDIS:K.I | G | S | 188 | 3 | 1 | GOT2 | P00505 | 3D-structure;-Acetylation;-Alternative-splicing;-Aminotransferase;Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Lipid-transport;-Membrane;-Mitochondrion;-Nitration;-Phosphoprotein;Polymorphism;-Pyridoxal-phosphate;-Reference-proteome;-Transferase;Transit-peptide;-Transport. | Intracellular | Atlas | chr16 | 58752198-58752204;58752430-58752465;M1;58752466-58752475 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs11076256). | 3 | 8 | 1476 | Unknown | 4.81019113548 |
984.210772983,5807.84483542 |
0.000000 |
| 1199 | mutation | K.L:EAANVHIDPK.F | V | L | 347 | 1 | 1 | CDH11 | P55287 | Alternative-splicing;-Calcium;-Cell-adhesion;-Cell-membrane;Chromosomal-rearrangement;-Cleavage-on-pair-of-basic-residues;Complete-proteome;-Glycoprotein;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr16 | 65016129-65016164;M1;65016165-65016168 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 6 | 681 | Targetable | 0.891450514253 |
4751.85657362,5807.84483542 |
3.000000 |
| 1199 | mutation | K.L:EAANVHIDPK.F | V | L | 221 | 1 | 1 | CDH11 | H3BUU9 | Cell-adhesion-{ECO:0000256|RuleBase:RU003318,Cell-membrane-{ECO:0000256|SAAS:SAAS00417603};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BUU9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00544605, | Membrane-Bound | Atlas | chr16 | 65016129-65016164;M1;65016165-65016168 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 6 | 681 | Targetable-Peptide | 0.891450514253 |
4751.85657362,5807.84483542 |
3.000000 |
| 1200 | mutation | R.ELALALQEALEPAVP:LGR.Y | R | P | 135 | 15 | 1 | EXOSC6 | Q5RKV6 | 3D-structure;-Complete-proteome;-Cytoplasm;-Exosome;-Nucleus;Reference-proteome;-RNA-binding;-rRNA-processing. | Intracellular | Atlas | chr16 | 70285386-70285399;M1;70285400-70285446 | 1 | 6 | 2 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | - | 1 | 1 | 31 | Unknown | 1.26210040096 |
4028.1775177,5807.84483542 |
0.000000 |
| 1201 | mutation | R.SEDYEQAAAHI:HR.Y | T | I | 158 | 11 | 1 | COG4 | Q9H9E3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Congenital-disorder-of-glycosylation;-Disease-mutation;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr16 | 70548286-70548296;M1;70548297-70548331 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs3931036). | 3 | 65 | 7210 | Unknown | 1.38703562609 |
4223.9326876,5807.84483542 |
1.000000 |
| 1201 | mutation | R.SEDYEQAAAHI:HR.Y | T | I | 162 | 11 | 1 | COG4 | A0A0A0MS45 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MS45,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 70548286-70548296;M1;70548297-70548331 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 65 | 7210 | Unknown | 1.38703562609 |
4223.9326876,5807.84483542 |
1.000000 |
| 1201 | mutation | R.SEDYEQAAAHI:HR.Y | T | I | 162 | 11 | 1 | COG4 | H3BMV9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BMV9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 70548286-70548296;M1;70548297-70548331 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 65 | 7210 | Unknown | 1.38703562609 |
4223.9326876,5807.84483542 |
1.000000 |
| 1201 | mutation | R.SEDYEQAAAHI:HR.Y | T | I | 162 | 11 | 1 | COG4 | J3KNI1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 70548286-70548296;M1;70548297-70548331 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 65 | 7210 | Unknown | 1.38703562609 |
4223.9326876,5807.84483542 |
1.000000 |
| 1201 | mutation | R.SEDYEQAAAHI:HR.Y | T | I | 85 | 11 | 1 | COG4 | J3KRB5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KRB5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 70548286-70548296;M1;70548297-70548331 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 65 | 7210 | Unknown | 1.38703562609 |
4223.9326876,5807.84483542 |
1.000000 |
| 1202 | mutation | F.:AVHDLEEDTWY:VAGILSFDK.S | A | V | 246 | 12 | 2 | HPR | A0A0A0MRD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0A0MRD9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 72110833-72110838;M1;72110839-72110870;M1;72110871-72110899 | 1 | 22 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 2 | 24 | Unknown | - |
- |
1.584963 |
| 1202 | mutation | F.:AVHDLEEDTWY:VAGILSFDK.S | A | V | 313 | 12 | 2 | HPR | P00739 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Hemoglobin-binding;-Polymorphism;-Reference-proteome;-Secreted;Serine-protease-homolog;-Signal;-Sushi. | Intracellular | Atlas | chr16 | 72110833-72110838;M1;72110839-72110870;M1;72110871-72110899 | 1 | 22 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 2 | 24 | Unknown | - |
- |
1.584963 |
| 1203 | mutation | K.HEWVTTENGIGTVGISS:FAQ:EALGDVVYCSLPEVGTK.L | N | S | 73 | 17 | 1 | GCSH | P23434 | Complete-proteome;-Lipoyl;-Mitochondrion;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr16 | 81121215-81121269;81124205-81124215;M1;81124216-81124268 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs8177877). | 3 | 2 | 192 | Unknown | 3.48037477239 |
1829.66900458,5807.84483542 |
0.000000 |
| 1203 | mutation | K.HEWVTTENGIGTVGISS:FAQ:EALGDVVYCSLPEVGTK.L | N | S | 73 | 17 | 1 | GCSH | H3BNV1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BNV1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr16 | 81121215-81121269;81124205-81124215;M1;81124216-81124268 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 2 | 192 | Unknown | 3.48037477239 |
1829.66900458,5807.84483542 |
0.000000 |
| 1206 | mutation | R.LQAEVLECL:SLVELTSLK.G | V | L | 154 | 9 | 1 | APRT | P07741 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;Glycosyltransferase;-Phosphoprotein;-Polymorphism;-Purine-salvage;Reference-proteome;-Transferase. | Intracellular | Atlas | chr16 | 88876156-88876188;M1;88876189-88876216 | 1 | 1 | 69 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 134 | Unknown | 4.54726867732 |
1048.56232164,5807.84483542 |
0 |
| 1206 | mutation | R.LQAEVLECL:SLVELTSLK.G | V | L | 127 | 9 | 1 | APRT | H3BQZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BQZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 88876156-88876188;M1;88876189-88876216 | 1 | 1 | 69 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 134 | Unknown | 4.54726867732 |
1048.56232164,5807.84483542 |
0 |
| 1207 | mutation | K.STESLQ:TNVQR.L | A | T | 112 | 7 | 1 | RPL13 | J3QSB4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSB4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU000572}. | Intracellular | Atlas | chr16 | 89628051-89628072;M1;89628073-89628090 | 1 | 4 | 9 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 40 | 15 | 3750 | Unknown | 4.85133810239 |
929.473882949,5807.84483542 |
0.000000 |
| 1207 | mutation | K.STESLQ:TNVQR.L | A | T | 112 | 7 | 1 | RPL13 | P26373 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Ribonucleoprotein;-Ribosomal-protein;-Ubl-conjugation. | Intracellular | Atlas | chr16 | 89628051-89628072;M1;89628073-89628090 | 1 | 4 | 9 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs9930567). | 40 | 15 | 3750 | Unknown | 4.85133810239 |
929.473882949,5807.84483542 |
0.000000 |
| 1208 | mutation | K.GHYTEG:VELVDSVLDVVR.K | A | V | 38 | 7 | 2 | TUBB3 | G3V2A3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V2A3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr16 | 90001165-90001187;M1;90001188-90001225 | 1 | 25 | 187 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 124 | 1 | 102 | Unknown | 3.31732218637 |
2018.397715,5807.84483542 |
1.000000 |
| 1208 | mutation | K.GHYTEG:VELVDSVLDVVR.K | A | V | 110 | 7 | 2 | TUBB3 | Q13509 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;GTP-binding;-Isopeptide-bond;-Microtubule;-Nucleotide-binding;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr16 | 90001165-90001187;M1;90001188-90001225 | 1 | 25 | 187 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 124 | 1 | 102 | Unknown | 3.31732218637 |
2018.397715,5807.84483542 |
1.000000 |
| 1209 | mutation | K.EAV:QQQQNQLVWVSEGK:.A | I | V | 794 | 3 | 1 | TJP1 | G5E9E7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G5E9E7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|SAAS:SAAS00452802}. | Intracellular | Atlas | chr15 | 30012909-30012912;30018582-30018626;M1;30018627-30018636 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 6 | 524 | Unknown | 2.65793014364 |
2711.62670362,5807.84483542 |
0.000000 |
| 1209 | mutation | K.EAV:QQQQNQLVWVSEGK:.A | I | V | 790 | 3 | 1 | TJP1 | Q07157 | 3D-structure;-Alternative-splicing;-Calmodulin-binding;-Cell-junction;Cell-membrane;-Complete-proteome;-Gap-junction;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SH3-domain; | Intracellular | Atlas | chr15 | 30012909-30012912;30018582-30018626;M1;30018627-30018636 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs7179270). | 3 | 6 | 524 | Unknown | 2.65793014364 |
2711.62670362,5807.84483542 |
0.000000 |
| 1209 | mutation | K.EAV:QQQQNQLVWVSEGK:.A | I | V | 790 | 3 | 1 | TJP1 | G3V1L9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V1L9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|SAAS:SAAS00452802}. | Intracellular | Atlas | chr15 | 30012909-30012912;30018582-30018626;M1;30018627-30018636 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 6 | 524 | Unknown | 2.65793014364 |
2711.62670362,5807.84483542 |
0.000000 |
| 1209 | mutation | K.EAV:QQQQNQLVWVSEGK:.A | I | V | 778 | 3 | 1 | TJP1 | A0A087X0K9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X0K9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|SAAS:SAAS00452802}. | Intracellular | Atlas | chr15 | 30012909-30012912;30018582-30018626;M1;30018627-30018636 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 6 | 524 | Unknown | 2.65793014364 |
2711.62670362,5807.84483542 |
0.000000 |
| 1210 | mutation | R.LCNNP:APQFGGK.D | T | A | 523 | 6 | 1 | THBS1 | P07996 | 3D-structure;-Alternative-splicing;-Calcium;-Cell-adhesion;Complete-proteome;-Disulfide-bond;-EGF-like-domain;Endoplasmic-reticulum;-Glycoprotein;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Sarcoplasmic-reticulum;-Signal;Unfolded-protein-response. | Intracellular | Atlas | chr15 | 39880803-39880821;M1;39880822-39880845 | 2 | 1 | 56 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs2292305). | 39 | 13 | 1350 | Unknown | 4.26950087259 |
1242.41606086,5807.84483542 |
6.370579 |
| 1211 | mutation | -.CENTDP:SYNCLPCPPR.F | G | S | 614 | 6 | 1 | THBS1 | P07996 | 3D-structure;-Alternative-splicing;-Calcium;-Cell-adhesion;Complete-proteome;-Disulfide-bond;-EGF-like-domain;Endoplasmic-reticulum;-Glycoprotein;-Heparin-binding;-Polymorphism;Reference-proteome;-Repeat;-Sarcoplasmic-reticulum;-Signal;Unfolded-protein-response. | Intracellular | Atlas | chr15 | 39881450-39881468;M1;39881469-39881501 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 51 | Unknown | 4.26950087259 |
1242.41606086,5807.84483542 |
0.000000 |
| 1212 | mutation | K.SISI:IDSPGILSGEK.Q | V | I | 154 | 4 | 1 | EHD4 | Q9H223 | Acetylation;-ATP-binding;-Calcium;-Cell-membrane;-Complete-proteome;Endosome;-Membrane;-Metal-binding;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr15 | 42235277-42235315;M1;42235316-42235328 | 2 | 0 | 15 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs11549015). | 21 | 19 | 2903 | Unknown | 3.9850547857 |
1469.51345954,5807.84483542 |
0.000000 |
| 1212 | mutation | K.SISI:IDSPGILSGEK.Q | V | I | 154 | 4 | 1 | EHD4 | A0A087WUA5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 42235277-42235315;M1;42235316-42235328 | 2 | 0 | 15 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 21 | 19 | 2903 | Unknown | 3.9850547857 |
1469.51345954,5807.84483542 |
0.000000 |
| 1213 | mutation | R.SLVQE:SLST:NSSDLVAPSPDAFR.S | D | E | 353 | 5 | 1 | TP53BP1 | Q12888 | 3D-structure;-Activator;-Alternative-splicing;-Centromere;Chromosomal-rearrangement;-Chromosome;-Complete-proteome;-DNA-damage;DNA-repair;-DNA-binding;-Isopeptide-bond;-Kinetochore;-Methylation;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr15 | 43766919-43766965;43767762-43767773;M1;43767774-43767791 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | D->E(indbSNP:rs560191). | 1 | 30 | 1344 | Unknown | 2.39029033232 |
3044.80739207,5807.84483542 |
2.754202 |
| 1213 | mutation | R.SLVQE:SLST:NSSDLVAPSPDAFR.S | D | E | 358 | 5 | 1 | TP53BP1 | A6NNK5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6NNK5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 43766919-43766965;43767762-43767773;M1;43767774-43767791 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 1344 | Unknown | 2.39029033232 |
3044.80739207,5807.84483542 |
2.754202 |
| 1213 | mutation | R.SLVQE:SLST:NSSDLVAPSPDAFR.S | D | E | 358 | 5 | 1 | TP53BP1 | C9JXV0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JXV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 43766919-43766965;43767762-43767773;M1;43767774-43767791 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 30 | 1344 | Unknown | 2.39029033232 |
3044.80739207,5807.84483542 |
2.754202 |
| 1214 | mutation | H.MTEDNKD:FIQGK.D | L | F | 254 | 8 | 1 | PDIA3 | P30101 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Isomerase;-Phosphoprotein;-Polymorphism;-Redox-active-center;Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr15 | 44058100-44058126;M1;44058127-44058142 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 1 | 250 | Unknown | 6.74826512808 |
544.76480535,5807.84483542 |
0.000000 |
| 1215 | mutation | K.NLIGTYMCICGS:GYQR.R | P | S | 2278 | 12 | 1 | FBN1 | P35555 | 3D-structure;-Aortic-aneurysm;-Calcium;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;EGF-like-domain;-Extracellular-matrix;-Glycoprotein;-Hormone;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr15 | 48722889-48722906;M1;48722907-48722943 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs363835). | 3 | 2 | 115 | Unknown | 4.70848529984 |
977.705586414,5807.84483542 |
0.000000 |
| 1215 | mutation | K.NLIGTYMCICGS:GYQR.R | P | S | 714 | 12 | 1 | FBN1 | H0YND0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00601599};EGF-like-domain-{ECO:0000256|SAAS:SAAS00602928};Proteomics-identification-{ECO:0000213|MaxQB:H0YND0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 48722889-48722906;M1;48722907-48722943 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 2 | 115 | Unknown | 4.70848529984 |
977.705586414,5807.84483542 |
0.000000 |
| 1216 | mutation | R.MDACCCSVGT:AWGTEECEECPMR.N | A | T | 986 | 10 | 1 | FBN1 | P35555 | 3D-structure;-Aortic-aneurysm;-Calcium;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;EGF-like-domain;-Extracellular-matrix;-Glycoprotein;-Hormone;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr15 | 48782129-48782173;M1;48782174-48782204 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 6 | Unknown | 4.70848529984 |
977.705586414,5807.84483542 |
0 |
| 1217 | mutation | -.GPCFTVISNR:MCQGQLSGIVCTK.T | Q | R | 193 | 9 | 1 | FBN1 | P35555 | 3D-structure;-Aortic-aneurysm;-Calcium;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;EGF-like-domain;-Extracellular-matrix;-Glycoprotein;-Hormone;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr15 | 48829922-48829965;M1;48829966-48829994 | 1 | 3 | 7 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 18 | 1 | 12 | Unknown | 4.70848529984 |
977.705586414,5807.84483542 |
0.000000 |
| 1217 | mutation | -.GPCFTVISNR:MCQGQLSGIVCTK.T | Q | R | 193 | 9 | 1 | FBN1 | F6U495 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:F6U495};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 48829922-48829965;M1;48829966-48829994 | 1 | 3 | 7 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 18 | 1 | 12 | Unknown | 4.70848529984 |
977.705586414,5807.84483542 |
0.000000 |
| 1218 | mutation | R.I:VGSPFDPTTEQGPQ:IDK.K | V | I | 348 | 1 | 1 | ALDH1A2 | O94788 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;-NAD;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr15 | 58254362-58254374;58256082-58256126;M1;58256127-58256130 | 2 | 6 | 4 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs4646626). | 9 | 41 | 1074 | Unknown | 1.15575701292 |
4161.50461941,5807.84483542 |
0.000000 |
| 1218 | mutation | R.I:VGSPFDPTTEQGPQ:IDK.K | V | I | 319 | 1 | 1 | ALDH1A2 | H0YMG7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0YMG7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 58254362-58254374;58256082-58256126;M1;58256127-58256130 | 2 | 6 | 4 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 41 | 1074 | Unknown | 1.15575701292 |
4161.50461941,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | P07355 | 3D-structure;-Acetylation;-Alternative-splicing;-Annexin;Basement-membrane;-Calcium;-Calcium/phospholipid-binding;Complete-proteome;-Direct-protein-sequencing;-Extracellular-matrix;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-RNA-binding;-Secreted;-Ubl-conjugation. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(polymorphism;doesnotaffect | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YMM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YKL9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKL9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YMT9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMT9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YN42 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YN42,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 33 | 10 | 1 | ANXA2 | H0YNP5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YNP5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YLV6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLV6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00429366}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 67 | 10 | 1 | ANXA2 | H0YM50 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YM50,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YMU9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMU9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00429366}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YKZ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKZ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YMD0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMD0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YKX9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKX9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 126 | 10 | 1 | ANXA2 | H0YMW4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMW4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1219 | mutation | K.SALSGHLETL:ILGLLK.T | V | L | 98 | 10 | 1 | ANXA2 | H0YKS4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKS4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00477337}. | Intracellular | Atlas | chr15 | 60653181-60653204;M1;60653205-60653235 | 2 | 1 | 177 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 15 | 3720 | Unknown | 7.01796887497 |
517.143423136,5807.84483542 |
0.000000 |
| 1220 | mutation | R.VA:SAVTELIQAAEAMK:.G | G | S | 2279 | 3 | 1 | TLN2 | Q9Y4G6 | Cell-junction;-Cell-membrane;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Disease-mutation;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Synapse. | Intracellular | Atlas | chr15 | 63111768-63111777;M1;63111778-63111820;63112684-63112686 | 2 | 2 | 22 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 51 | Unknown | 2.6708890258 |
2712.87917832,5807.84483542 |
0.000000 |
| 1220 | mutation | R.VA:SAVTELIQAAEAMK:.G | G | S | 1193 | 3 | 1 | TLN2 | H0YMT1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMT1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 63111768-63111777;M1;63111778-63111820;63112684-63112686 | 2 | 2 | 22 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 51 | Unknown | 2.6708890258 |
2712.87917832,5807.84483542 |
0.000000 |
| 1221 | mutation | K.YAMAWGVVE:K.K | R | K | 469 | 10 | 1 | LACTB | P83111 | Acetylation;-Alternative-splicing;-Complete-proteome;-Hydrolase;Mitochondrion;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr15 | 63433734-63433765;M1;63433766-63433770 | 1 | 6 | 9 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | R->K(indbSNP:rs2729835). | 24 | 69 | 3256 | Unknown | 2.62672148784 |
2743.9713748,5807.84483542 |
1.909304 |
| 1222 | mutation | K.ED:CSSAEFLEK.R | S | C | 229 | 3 | 1 | SNX1 | Q13596 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-projection;Complete-proteome;-Endosome;-Golgi-apparatus;-Lipid-binding;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr15 | 64419395-64419405;M1;64419406-64419434 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 18 | 1 | 250 | Unknown | 3.42886302411 |
1951.86881043,5807.84483542 |
0.000000 |
| 1222 | mutation | K.ED:CSSAEFLEK.R | S | C | 11 | 3 | 1 | SNX1 | H0YK42 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK42,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 64419395-64419405;M1;64419406-64419434 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 18 | 1 | 250 | Unknown | 3.42886302411 |
1951.86881043,5807.84483542 |
0.000000 |
| 1223 | mutation | R.CH:DAVQNCCGISK.- | R | H | 448 | 2 | 1 | CILP | O75339 | Cleavage-on-pair-of-basic-residues;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Extracellular-matrix;Glycoprotein;-Immunoglobulin-domain;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr15 | 65491246-65491280;M1;65491281-65491288 | 1 | 18 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 1 | 59 | Unknown | 1.13658784788 |
4156.44644427,5807.84483542 |
0 |
| 1225 | mutation | K.NGLSFIETSALDSTNVEAAFQT:VLT:EIYR.I | I | V | 168 | 23 | 1 | RAB11A | P62491 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-cycle;Cell-membrane;-Complete-proteome;-Cytoplasmic-vesicle;Direct-protein-sequencing;-Endosome;-GTP-binding;-Lipoprotein;Membrane;-Methylation;-Nucleotide-binding;-Prenylation;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr15 | 66172010-66172079;M1;66172080-66172089;66180038-66180052 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 8 | 262 | Unknown | 4.8521600267 |
969.684393053,5807.84483542 |
0.000000 |
| 1225 | mutation | K.NGLSFIETSALDSTNVEAAFQT:VLT:EIYR.I | I | V | 98 | 23 | 1 | RAB11A | B4DQU5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B4DQU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 66172010-66172079;M1;66172080-66172089;66180038-66180052 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 8 | 262 | Unknown | 4.8521600267 |
969.684393053,5807.84483542 |
0.000000 |
| 1225 | mutation | K.NGLSFIETSALDSTNVEAAFQT:VLT:EIYR.I | I | V | 49 | 23 | 1 | RAB11A | H3BN38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BN38,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 66172010-66172079;M1;66172080-66172089;66180038-66180052 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 8 | 262 | Unknown | 4.8521600267 |
969.684393053,5807.84483542 |
0.000000 |
| 1227 | mutation | K.CVSNIGDVVD:NEECNMK.L | D | N | 773 | 11 | 1 | THSD4 | Q6ZMP0 | Alternative-splicing;-Complete-proteome;-Extracellular-matrix;Hydrolase;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr15 | 72040801-72040834;M1;72040835-72040858 | 1 | 1 | 1 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 48 | Unknown | 1.86180190541 |
3538.11463668,5807.84483542 |
0.000000 |
| 1228 | mutation | R.LAPITSDPA:EATAVGAVEASFK.C | T | A | 409 | 9 | 1 | PKM | P14618 | 3D-structure;-Acetylation;-Allosteric-enzyme;-Alternative-splicing;ATP-binding;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Glycolysis;-Hydroxylation;-Isopeptide-bond;-Kinase;-Magnesium;Metal-binding;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Potassium;-Pyruvate;-Reference-proteome;-Transferase; | Intracellular | Atlas | chr15 | 72494832-72494876;M1;72494877-72494904 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 232 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1228 | mutation | R.LAPITSDPA:EATAVGAVEASFK.C | T | A | 335 | 9 | 1 | PKM | B4DNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Kinase-{ECO:0000256|RuleBase:RU000504,-ECO:0000313|EMBL:BAG60266.1};Proteomics-identification-{ECO:0000213|EPD:B4DNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72494832-72494876;M1;72494877-72494904 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 232 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | P14618 | 3D-structure;-Acetylation;-Allosteric-enzyme;-Alternative-splicing;ATP-binding;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Glycolysis;-Hydroxylation;-Isopeptide-bond;-Kinase;-Magnesium;Metal-binding;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Potassium;-Pyruvate;-Reference-proteome;-Transferase; | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BQ34 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BQ34,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BTJ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BTJ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BTN5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BTN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BU13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BU13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | B4DNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Kinase-{ECO:0000256|RuleBase:RU000504,-ECO:0000313|EMBL:BAG60266.1};Proteomics-identification-{ECO:0000213|EPD:B4DNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BT25 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BT25,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1230 | mutation | R.D:TGIICTIG:PASR.S | N | D | 44 | 1 | 1 | PKM | H3BUW1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BUW1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 72509824-72509841;72511284-72511308;M1;72511309-72511312 | 2 | 4 | 19 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 500 | Unknown | 7.56630521752 |
439.989220183,5807.84483542 |
0.000000 |
| 1231 | mutation | K.DFYV:VEPLAFEG:TPEQK.A | I | V | 436 | 4 | 1 | HEXA | H3BS10 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BS10,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72638646-72638666;72638867-72638891;M1;72638892-72638904 | 2 | 5 | 221 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 57 | 66 | 14905 | Unknown | 2.90911453415 |
2434.93532526,5807.84483542 |
0.000000 |
| 1231 | mutation | K.DFYV:VEPLAFEG:TPEQK.A | I | V | 436 | 4 | 1 | HEXA | P06865 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Gangliosidosis;-Glycoprotein;-Glycosidase;-Hydrolase;-Lysosome;Neurodegeneration;-Polymorphism;-Reference-proteome;-Signal;-Zymogen. | Intracellular | Atlas | chr15 | 72638646-72638666;72638867-72638891;M1;72638892-72638904 | 2 | 5 | 221 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1800431). | 57 | 66 | 14905 | Unknown | 2.90911453415 |
2434.93532526,5807.84483542 |
0.000000 |
| 1231 | mutation | K.DFYV:VEPLAFEG:TPEQK.A | I | V | 447 | 4 | 1 | HEXA | H3BP20 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|PIRSR:PIRSR001093-2};Proteomics-identification-{ECO:0000213|EPD:H3BP20,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 72638646-72638666;72638867-72638891;M1;72638892-72638904 | 2 | 5 | 221 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 57 | 66 | 14905 | Unknown | 2.90911453415 |
2434.93532526,5807.84483542 |
0.000000 |
| 1232 | mutation | -.EVAVGDSTGMA:LAR.T | R | L | 141 | 11 | 1 | LOXL1 | H3BUV8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BUV8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 74219511-74219545;M1;74219546-74219556 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 33 | 4138 | Unknown | -0.400671181273 |
6176.52426432,5807.84483542 |
3.433069 |
| 1232 | mutation | -.EVAVGDSTGMA:LAR.T | R | L | 141 | 11 | 1 | LOXL1 | Q08397 | Cleavage-on-pair-of-basic-residues;-Complete-proteome;-Copper;Disulfide-bond;-Glaucoma;-LTQ;-Metal-binding;-Oxidoreductase;Polymorphism;-Reference-proteome;-Secreted;-Signal;-TPQ. | Intracellular | Atlas | chr15 | 74219511-74219545;M1;74219546-74219556 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | R->L(associatedwithexfoliation | 1 | 33 | 4138 | Unknown | -0.400671181273 |
6176.52426432,5807.84483542 |
3.433069 |
| 1233 | mutation | R.VVIQPEA:LFSIYSK.A | F | L | 645 | 8 | 1 | PML | P29590 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;Antiviral-defense;-Apoptosis;-Biological-rhythms;Chromosomal-rearrangement;-Coiled-coil;-Complete-proteome;-Cytoplasm;DNA-binding;-Endoplasmic-reticulum;-Endosome;-Host-virus-interaction;Immunity;-Innate-immunity;-Isopeptide-bond;-Membrane;-Metal-binding;Nucleus;-Phosphoprotein;-Polymorphism;-Proto-oncogene;Reference-proteome;-Repeat;-Transcription;-Transcription-regulation;Tumor-suppressor;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr15 | 74336608-74336632;M1;74336633-74336656 | 2 | 12 | 112 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | F->L(indbSNP:rs5742915). | 51 | 41 | 5822 | Unknown | 3.82543121668 |
1578.52102335,5807.84483542 |
1.000000 |
| 1234 | mutation | K.GCYTVDNEVQPSGPEDNV:IIIYLSR.A | V | I | 386 | 19 | 1 | ISLR | O14498 | Complete-proteome;-Disulfide-bond;-Glycoprotein;Immunoglobulin-domain;-Leucine-rich-repeat;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr15 | 74468297-74468354;M1;74468355-74468378 | 1 | 9 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 1.68793086625 |
3750.93349392,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 139 | 14 | 1 | ETFA | H0YL12 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YL12,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 201 | 14 | 1 | ETFA | P13804 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Electron-transport;-FAD;Flavoprotein;-Glutaricaciduria;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 201 | 14 | 1 | ETFA | H0YKF0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKF0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 105 | 14 | 1 | ETFA | H0YNX6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YNX6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 201 | 14 | 1 | ETFA | H0YLU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1235 | mutation | K.A:SSTSPVEISEWLY:QK.L | D | Y | 97 | 14 | 1 | ETFA | H0YK49 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK49,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578029-76578040;M1;76578041-76578079;76578711-76578715 | 1 | 1 | 3 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | - | 6 | 7 | 1093 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 109 | 2 | 1 | ETFA | H0YL12 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YL12,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 171 | 2 | 1 | ETFA | P13804 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Electron-transport;-FAD;Flavoprotein;-Glutaricaciduria;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs1801591). | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 171 | 2 | 1 | ETFA | H0YKF0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKF0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 75 | 2 | 1 | ETFA | H0YNX6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YNX6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 171 | 2 | 1 | ETFA | H0YLU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1236 | mutation | R.G:ISFDAAATSGGSASSEK.A | T | I | 67 | 2 | 1 | ETFA | H0YK49 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK49,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 76578077-76578079;76578711-76578761;M1;76578762-76578769 | 2 | 1 | 14 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 12 | 11 | 2627 | Unknown | 4.91343839235 |
918.938157258,5807.84483542 |
0.000000 |
| 1237 | mutation | K.TPYT:EVNIVTIR.E | D | E | 139 | 5 | 1 | IDH3A | P50213 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Magnesium;-Manganese;-Metal-binding;Mitochondrion;-NAD;-Oxidoreductase;-Phosphoprotein;Reference-proteome;-Transit-peptide;-Tricarboxylic-acid-cycle. | Intracellular | Atlas | chr15 | 78454032-78454049;M1;78454050-78454074 | 1 | 9 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 2 | 134 | Unknown | 4.12951041723 |
1324.55741,5807.84483542 |
0.000000 |
| 1237 | mutation | K.TPYT:EVNIVTIR.E | D | E | 89 | 5 | 1 | IDH3A | H0YKD0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKD0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 78454032-78454049;M1;78454050-78454074 | 1 | 9 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 2 | 134 | Unknown | 4.12951041723 |
1324.55741,5807.84483542 |
0.000000 |
| 1237 | mutation | K.TPYT:EVNIVTIR.E | D | E | 111 | 5 | 1 | IDH3A | H0YMU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 78454032-78454049;M1;78454050-78454074 | 1 | 9 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 2 | 134 | Unknown | 4.12951041723 |
1324.55741,5807.84483542 |
0.000000 |
| 1237 | mutation | K.TPYT:EVNIVTIR.E | D | E | 104 | 5 | 1 | IDH3A | H0YL72 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YL72,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 78454032-78454049;M1;78454050-78454074 | 1 | 9 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 2 | 134 | Unknown | 4.12951041723 |
1324.55741,5807.84483542 |
0.000000 |
| 1237 | mutation | K.TPYT:EVNIVTIR.E | D | E | 89 | 5 | 1 | IDH3A | H0YLI6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLI6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 78454032-78454049;M1;78454050-78454074 | 1 | 9 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 2 | 134 | Unknown | 4.12951041723 |
1324.55741,5807.84483542 |
0.000000 |
| 1238 | mutation | R.S:CEESADAPVDQNSVVIPAAAK.D | R | C | 574 | 2 | 1 | AKAP13 | Q12802 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Guanine-nucleotide-releasing-factor;-Membrane;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;-Proto-oncogene;Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr15 | 86123012-86123018;M1;86123019-86123084 | 2 | 5 | 12 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs2061824). | 3 | 51 | 788 | Unknown | 0.220660943286 |
5613.68994103,5807.84483542 |
0.000000 |
| 1238 | mutation | R.S:CEESADAPVDQNSVVIPAAAK.D | R | C | 574 | 2 | 1 | AKAP13 | H0YMW2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMW2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 86123012-86123018;M1;86123019-86123084 | 2 | 5 | 12 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 51 | 788 | Unknown | 0.220660943286 |
5613.68994103,5807.84483542 |
0.000000 |
| 1239 | mutation | K.GNTDSSLQS:MGK.A | V | M | 897 | 10 | 1 | AKAP13 | Q12802 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Guanine-nucleotide-releasing-factor;-Membrane;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;-Proto-oncogene;Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr15 | 86123957-86123987;M1;86123988-86123999 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs4075254). | 1 | 46 | 831 | Unknown | 0.220660943286 |
5613.68994103,5807.84483542 |
1.653797 |
| 1239 | mutation | K.GNTDSSLQS:MGK.A | V | M | 897 | 10 | 1 | AKAP13 | H0YMW2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMW2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 86123957-86123987;M1;86123988-86123999 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 46 | 831 | Unknown | 0.220660943286 |
5613.68994103,5807.84483542 |
1.653797 |
| 1240 | mutation | E.:CVEPLGM:ENGNIANSQIAASSVR.V | L | M | 32 | 7 | 1 | MFGE8 | F5GZN3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GZN3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr15 | 89450533-89450586;M1;89450587-89450607;89456477-89456478 | 1 | 2 | 24 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 46 | 59 | 13272 | Unknown | 3.03950397505 |
2234.01485447,5807.84483542 |
0.000000 |
| 1241 | mutation | K.VVEYLLPA:DKEESA:PAPGHQQAQK.S | P | A | 194 | 8 | 1 | PLIN1 | O60240 | Complete-proteome;-Endoplasmic-reticulum;-Lipid-droplet;Lipid-metabolism;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr15 | 90212868-90212903;90213210-90213228;M1;90213229-90213253 | 2 | 6 | 23 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs6496589). | 9 | 36 | 269 | Unknown | 1.26994696847 |
3182.64091312,5807.84483542 |
1.992427 |
| 1242 | mutation | R.QQQDYWL:MDVR.A | I | M | 603 | 8 | 1 | ANPEP | P15144 | 3D-structure;-Aminopeptidase;-Angiogenesis;-Cell-membrane;Complete-proteome;-Cytoplasm;-Developmental-protein;-Differentiation;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Host-virus-interaction;-Hydrolase;Membrane;-Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Receptor;-Reference-proteome;-Signal-anchor;-Sulfation;-Transmembrane;Transmembrane-helix;-Zinc. | Membrane-Bound | Atlas | chr15 | 90342788-90342790;90344341-90344351;M1;90344352-90344378 | 2 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | I->K(indbSNP:rs17240212). I->M(indbSNP:rs8192297). |
1 | 17 | 1239 | Targetable | 2.49515106783 |
2777.49872239,5807.84483542 |
4.000000 |
| 1243 | mutation | N.TLKPDSYQ:VTLRPYLTPNDR.G | R | Q | 86 | 8 | 1 | ANPEP | P15144 | 3D-structure;-Aminopeptidase;-Angiogenesis;-Cell-membrane;Complete-proteome;-Cytoplasm;-Developmental-protein;-Differentiation;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Host-virus-interaction;-Hydrolase;Membrane;-Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Receptor;-Reference-proteome;-Signal-anchor;-Sulfation;-Transmembrane;Transmembrane-helix;-Zinc. | Membrane-Bound | Atlas | chr15 | 90349517-90349557;M1;90349558-90349583 | 4 | 5 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs25653). | 3 | 60 | 3481 | Targetable | 2.49515106783 |
2777.49872239,5807.84483542 |
1.868198 |
| 1243 | mutation | N.TLKPDSYQ:VTLRPYLTPNDR.G | R | Q | 86 | 8 | 1 | ANPEP | H0YKT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YKT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr15 | 90349517-90349557;M1;90349558-90349583 | 4 | 5 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 60 | 3481 | Targetable-Peptide | 2.49515106783 |
2777.49872239,5807.84483542 |
1.868198 |
| 1244 | mutation | K.LNEHFLNTM:DFLDTIK.S | T | M | 295 | 9 | 1 | IDH2 | H0YL11 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YL11,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 90627527-90627552;M1;90627553-90627581 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 1 | 250 | Unknown | 5.81218027302 |
651.109566056,5807.84483542 |
0 |
| 1244 | mutation | K.LNEHFLNTM:DFLDTIK.S | T | M | 435 | 9 | 1 | IDH2 | P48735 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Glyoxylate-bypass;-Magnesium;-Manganese;Metal-binding;-Mitochondrion;-NADP;-Oxidoreductase;Reference-proteome;-Transit-peptide;-Tricarboxylic-acid-cycle. | Intracellular | Atlas | chr15 | 90627527-90627552;M1;90627553-90627581 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 1 | 250 | Unknown | 5.81218027302 |
651.109566056,5807.84483542 |
0 |
| 1245 | mutation | K.NPNAMLVNLEEPLA:ATYQDILYQAK.Q | S | A | 256 | 15 | 1 | IQGAP1 | P46940 | 3D-structure;-Acetylation;-Calmodulin-binding;-Cell-membrane;Complete-proteome;-Direct-protein-sequencing;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr15 | 90984808-90984853;M1;90984854-90984889 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs12324924). | 1 | 2 | 163 | Unknown | 5.18014383778 |
826.502745981,5807.84483542 |
0.000000 |
| 1245 | mutation | K.NPNAMLVNLEEPLA:ATYQDILYQAK.Q | S | A | 256 | 15 | 1 | IQGAP1 | A0A0J9YXZ5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YXZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 90984808-90984853;M1;90984854-90984889 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 2 | 163 | Unknown | 5.18014383778 |
826.502745981,5807.84483542 |
0.000000 |
| 1246 | mutation | R.GLQQQNS:NWYLK.Q | D | N | 344 | 8 | 1 | IQGAP1 | P46940 | 3D-structure;-Acetylation;-Calmodulin-binding;-Cell-membrane;Complete-proteome;-Direct-protein-sequencing;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr15 | 90991896-90991920;M1;90991921-90991938 | 1 | 3 | 1 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 5.18014383778 |
826.502745981,5807.84483542 |
0.000000 |
| 1246 | mutation | R.GLQQQNS:NWYLK.Q | D | N | 344 | 8 | 1 | IQGAP1 | A0A0J9YXZ5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YXZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 90991896-90991920;M1;90991921-90991938 | 1 | 3 | 1 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 5.18014383778 |
826.502745981,5807.84483542 |
0.000000 |
| 1247 | mutation | R.S:NASEFQ:PSFHQADNVR.G | S | N | 72 | 2 | 1 | CRTC3 | Q6UUV7 | Activator;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Host-virus-interaction;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transcription;-Transcription-regulation. | Intracellular | Atlas | chr15 | 91083345-91083352;M1;91083353-91083369;91136867-91136900 | 2 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs8033595). | 3 | 48 | 4065 | Unknown | -1.16504052711 |
7125.78994597,5807.84483542 |
2.592868 |
| 1248 | mutation | K.ILEVGGSLQDPPGELAVT:ENSR.M | A | E | 365 | 19 | 1 | UNC45A | Q9H3U1 | 3D-structure;-Acetylation;-Alternative-splicing;-Chaperone;Complete-proteome;-Cytoplasm;-Developmental-protein;-Differentiation;Myogenesis;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-TPR-repeat. | Intracellular | Atlas | chr15 | 91488129-91488187;M1;91488188-91488201 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 115 | 190 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 80 | Unknown | 2.65918434064 |
2727.97491052,5807.84483542 |
0.000000 |
| 1249 | mutation | R.QIILCMEE:LDHTPDTSFER.D | A | E | 187 | 8 | 1 | PRC1 | O43663 | 3D-structure;-Alternative-splicing;-Cell-cycle;-Cell-division;Coiled-coil;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Microtubule;Nucleus;-Oncogene;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr15 | 91524803-91524840;M1;91524841-91524866 | 2 | 0 | 2 | 1 | 0 | -1 | -1 | 115 | 190 | 75 | -3.500000 | Hydrophilic;3.000000 | A->E(indbSNP:rs7172758). | 3 | 67 | 7044 | Unknown | -0.360672879196 |
6244.45167254,5807.84483542 |
2.065516 |
| 1250 | mutation | K.LECGGSA:VEDK.G | M | V | 279 | 8 | 1 | ALDH1A3 | H0Y2X5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0Y2X5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr15 | 101445790-101445814;M1;101445815-101445829 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 9 | 306 | Unknown | 1.8147759689 |
3491.78282006,5807.84483542 |
0.000000 |
| 1250 | mutation | K.LECGGSA:VEDK.G | M | V | 386 | 8 | 1 | ALDH1A3 | P47895 | Acetylation;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Microphthalmia;-NAD;-Oxidoreductase;-Polymorphism; | Intracellular | Atlas | chr15 | 101445790-101445814;M1;101445815-101445829 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs3803430). | 3 | 9 | 306 | Unknown | 1.8147759689 |
3491.78282006,5807.84483542 |
0.000000 |
| 1251 | mutation | R.IQQH:LGEEASPR.G | V | L | 956 | 5 | 1 | ARHGEF40 | Q8TER5 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Guanine-nucleotide-releasing-factor;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr14 | 21549877-21549892;M1;21549893-21549919 | 1 | 6 | 10 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs7143633). | 30 | 81 | 6392 | Unknown | -1.4461890759 |
7209.03994867,5807.84483542 |
1.000000 |
| 1253 | mutation | R.ELLVP:QHTVQLVGGLSPLSSPSDTK.A | S | P | 467 | 5 | 1 | ACIN1 | Q9UKV3 | Acetylation;-Alternative-splicing;-Apoptosis;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Methylation;mRNA-processing;-mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-Ubl-conjugation. | Intracellular | Atlas | chr14 | 23549253-23549318;M1;23549319-23549334 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs1885097). | 3 | 42 | 5508 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1253 | mutation | R.ELLVP:QHTVQLVGGLSPLSSPSDTK.A | S | P | 427 | 5 | 1 | ACIN1 | E7EQT4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQT4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 23549253-23549318;M1;23549319-23549334 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 42 | 5508 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1253 | mutation | R.ELLVP:QHTVQLVGGLSPLSSPSDTK.A | S | P | 409 | 5 | 1 | ACIN1 | S4R3H4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3H4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 23549253-23549318;M1;23549319-23549334 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 42 | 5508 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1254 | mutation | K.EFKEEGEEM:PR.V | I | M | 311 | 9 | 1 | ACIN1 | Q9UKV3 | Acetylation;-Alternative-splicing;-Apoptosis;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Methylation;mRNA-processing;-mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-Ubl-conjugation. | Intracellular | Atlas | chr14 | 23549775-23549784;M1;23549785-23549814 | 2 | 12 | 54 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | I->M(indbSNP:rs3811182). | 21 | 45 | 6410 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1254 | mutation | K.EFKEEGEEM:PR.V | I | M | 271 | 9 | 1 | ACIN1 | E7EQT4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQT4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 23549775-23549784;M1;23549785-23549814 | 2 | 12 | 54 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 21 | 45 | 6410 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1254 | mutation | K.EFKEEGEEM:PR.V | I | M | 253 | 9 | 1 | ACIN1 | S4R3H4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3H4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 23549775-23549784;M1;23549785-23549814 | 2 | 12 | 54 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 21 | 45 | 6410 | Unknown | 2.68858614202 |
2689.67336176,5807.84483542 |
0.000000 |
| 1255 | mutation | R.AVGEPMRPLAEECCQLGLGLCDQVDDA:DLR.R | P | A | 580 | 27 | 2 | IPO4 | H0YN14 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YN14,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24653508-24653522;M1;24653523-24653604 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 37 | 5836 | Unknown | 2.48363530279 |
2821.40978856,5807.84483542 |
0.000000 |
| 1255 | mutation | R.AVGEPMRPLAEECCQLGLGLCDQVDDA:DLR.R | P | A | 44 | 27 | 2 | IPO4 | H0YMR4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMR4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24653508-24653522;M1;24653523-24653604 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 37 | 5836 | Unknown | 2.48363530279 |
2821.40978856,5807.84483542 |
0.000000 |
| 1255 | mutation | R.AVGEPMRPLAEECCQLGLGLCDQVDDA:DLR.R | P | A | 580 | 27 | 2 | IPO4 | Q8TEX9 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Nucleus;-Polymorphism;-Protein-transport;Reference-proteome;-Repeat;-Transport. | Intracellular | Atlas | chr14 | 24653508-24653522;M1;24653523-24653604 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs11550452). | 3 | 37 | 5836 | Unknown | 2.48363530279 |
2821.40978856,5807.84483542 |
0.000000 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 16 | 4 | 1 | GMPR2 | H0YN22 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YN22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 295 | 4 | 1 | GMPR2 | A0A087WWM4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};NADP-{ECO:0000256|HAMAP-Rule:MF_03195,-ECO:0000256|RuleBase:RU003929};Proteomics-identification-{ECO:0000213|EPD:A0A087WWM4,Purine-metabolism-{ECO:0000256|HAMAP-Rule:MF_03195};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 280 | 4 | 1 | GMPR2 | H0YLV5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YLV5,Purine-metabolism-{ECO:0000256|HAMAP-Rule:MF_03195};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 10 | 4 | 1 | GMPR2 | H0YMW6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMW6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 374 | 4 | 1 | GMPR2 | H0YNJ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};NADP-{ECO:0000256|HAMAP-Rule:MF_03195,-ECO:0000256|RuleBase:RU003929};Proteomics-identification-{ECO:0000213|EPD:H0YNJ6,Purine-metabolism-{ECO:0000256|HAMAP-Rule:MF_03195};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 262 | 4 | 1 | GMPR2 | H0YMB3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YMB3,Purine-metabolism-{ECO:0000256|HAMAP-Rule:MF_03195};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 35 | 4 | 1 | GMPR2 | H0YK13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 295 | 4 | 1 | GMPR2 | Q9P2T1 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Metal-binding;-NADP;-Oxidoreductase;-Polymorphism;-Potassium;Purine-metabolism;-Reference-proteome. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 63 | 4 | 1 | GMPR2 | H0YK71 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YK71,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1256 | mutation | K.TVE:LPFKGDVEHTIR.D | V | L | 296 | 4 | 1 | GMPR2 | F8WAN9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};NADP-{ECO:0000256|HAMAP-Rule:MF_03195,-ECO:0000256|RuleBase:RU003929};Proteomics-identification-{ECO:0000213|EPD:F8WAN9,Purine-metabolism-{ECO:0000256|HAMAP-Rule:MF_03195};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24707807-24707819;M1;24707820-24707858 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 61 | Unknown | 2.9823792117 |
2337.50377924,5807.84483542 |
0 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 65 | 28 | 2 | SDR39U1 | G3V451 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V451,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 126 | 28 | 2 | SDR39U1 | G3V4Z0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V4Z0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 65 | 28 | 2 | SDR39U1 | G3V4N6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V4N6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 124 | 28 | 2 | SDR39U1 | Q86TZ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q86TZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 107 | 28 | 2 | SDR39U1 | G3V5T1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V5T1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 107 | 28 | 2 | SDR39U1 | G3V2Z6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:G3V2Z6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 258 | 28 | 2 | SDR39U1 | Q9NRG7 | 3D-structure;-Alternative-splicing;-Complete-proteome;-NADP;Oxidoreductase;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | L->F(indbSNP:rs3211056). | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 155 | 28 | 2 | SDR39U1 | H0YJ71 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YJ71,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1257 | mutation | H.ALEANHVHGVLNGVAPSSATNAEFAQTF:GAALGR.R | L | F | 150 | 28 | 2 | SDR39U1 | F6RWC2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6RWC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 24909453-24909474;M1;24909475-24909561 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 63 | 13805 | Unknown | 2.31435178407 |
2996.57400735,5807.84483542 |
0.000000 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 43 | 13 | 1 | SCFD1 | H0YJS6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YJS6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 63 | 13 | 1 | SCFD1 | G3V4I1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V4I1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 63 | 13 | 1 | SCFD1 | Q8WVM8 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs229150). | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 63 | 13 | 1 | SCFD1 | G3V5F3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V5F3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Targetable-Peptide | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 38 | 13 | 1 | SCFD1 | G3V363 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V363,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 63 | 13 | 1 | SCFD1 | J3KNG4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNG4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1258 | mutation | R.FGQDIISPLLSV:R.E | K | R | 38 | 13 | 1 | SCFD1 | G3V2M8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V2M8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31099697-31099737;M1;31099738-31099742 | 1 | 2 | 16 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 34 | 4084 | Unknown | 3.49828478472 |
1873.24166456,5807.84483542 |
2.248738 |
| 1259 | mutation | R.LAQM:VDDGAFTAGLAQVSFDK:.L | V | M | 886 | 4 | 2 | HEATR5A | F5H619 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H619,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31817109-31817113;31818994-31819046;M1;31819047-31819059 | 1 | 0 | 18 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 50 | 78 | 1124 | Unknown | -1.4150075173 |
7354.50514292,5807.84483542 |
2.737514 |
| 1259 | mutation | R.LAQM:VDDGAFTAGLAQVSFDK:.L | V | M | 529 | 4 | 2 | HEATR5A | H0YIW3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YIW3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31817109-31817113;31818994-31819046;M1;31819047-31819059 | 1 | 0 | 18 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 50 | 78 | 1124 | Unknown | -1.4150075173 |
7354.50514292,5807.84483542 |
2.737514 |
| 1259 | mutation | R.LAQM:VDDGAFTAGLAQVSFDK:.L | V | M | 514 | 4 | 2 | HEATR5A | H7C5W6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C5W6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 31817109-31817113;31818994-31819046;M1;31819047-31819059 | 1 | 0 | 18 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 50 | 78 | 1124 | Unknown | -1.4150075173 |
7354.50514292,5807.84483542 |
2.737514 |
| 1259 | mutation | R.LAQM:VDDGAFTAGLAQVSFDK:.L | V | M | 880 | 4 | 2 | HEATR5A | Q86XA9 | Alternative-splicing;-Complete-proteome;-Phosphoprotein;Reference-proteome;-Repeat. | Intracellular | Atlas | chr14 | 31817109-31817113;31818994-31819046;M1;31819047-31819059 | 1 | 0 | 18 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 50 | 78 | 1124 | Unknown | -1.4150075173 |
7354.50514292,5807.84483542 |
2.737514 |
| 1260 | mutation | C.LEP:FTELAEDKENYK.K | L | P | 423 | 3 | 1 | HSP90AA1 | P07900 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-membrane;-Chaperone;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Membrane;-Nucleotide-binding;Phosphoprotein;-Reference-proteome;-S-nitrosylation;-Stress-response; | Intracellular | Atlas | chr14 | 102548662-102548702;M1;102548703-102548713 | 3 | 6 | 44 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 15 | 4 | 1000 | Unknown | 5.85370181885 |
645.258975707,5807.84483542 |
0.000000 |
| 1261 | mutation | K.AQ:FGDKPSEGR.P | S | F | 44 | 3 | 1 | POLR2E | A0A087WVZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | M1;1093976-1094003;M1;1094004-1094014 | 2 | 1 | 68 | 2 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 12 | 67 | 31100 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1261 | mutation | K.AQ:FGDKPSEGR.P | S | F | 44 | 3 | 1 | POLR2E | P19388 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-DNA-directed-RNA-polymerase;Host-virus-interaction;-Nucleus;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr19 | M1;1093976-1094003;M1;1094004-1094014 | 2 | 1 | 68 | 2 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | S->F(indbSNP:rs12459404). | 12 | 67 | 31100 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1261 | mutation | K.AQ:FGDKPSEGR.P | S | F | 44 | 3 | 1 | POLR2E | A0A0A0MQR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | M1;1093976-1094003;M1;1094004-1094014 | 2 | 1 | 68 | 2 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 12 | 67 | 31100 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1263 | mutation | K.ECVL:HD:DLLEAR.R | R | H | 166 | 5 | 1 | HMHA1 | K7EM85 | Coiled-coil-{ECO:0000256|SAAS:SAAS00534773,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EM85,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 1068721-1068737;M1;1068738-1068743;1073147-1073167 | 1 | 4 | 10 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 24 | 42 | 864 | Unknown | -0.068118710164 |
5992.06290162,5807.84483542 |
1.589281 |
| 1263 | mutation | K.ECVL:HD:DLLEAR.R | R | H | 139 | 5 | 1 | HMHA1 | Q92619 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-GTPase-activation;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr19 | 1068721-1068737;M1;1068738-1068743;1073147-1073167 | 1 | 4 | 10 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(inalleleHA-1H;inductionofCTL | 24 | 42 | 864 | Unknown | -0.068118710164 |
5992.06290162,5807.84483542 |
1.589281 |
| 1263 | mutation | K.ECVL:HD:DLLEAR.R | R | H | 143 | 5 | 1 | HMHA1 | K7ES98 | Coiled-coil-{ECO:0000256|SAAS:SAAS00534773,-ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7ES98,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 1068721-1068737;M1;1068738-1068743;1073147-1073167 | 1 | 4 | 10 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 24 | 42 | 864 | Unknown | -0.068118710164 |
5992.06290162,5807.84483542 |
1.589281 |
| 1263 | mutation | K.ECVL:HD:DLLEAR.R | R | H | 144 | 5 | 1 | HMHA1 | K7EQA4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EQA4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 1068721-1068737;M1;1068738-1068743;1073147-1073167 | 1 | 4 | 10 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 24 | 42 | 864 | Unknown | -0.068118710164 |
5992.06290162,5807.84483542 |
1.589281 |
| 1264 | mutation | K.AQF:GDKPSEGRPR.R | S | F | 44 | 3 | 1 | POLR2E | A0A087WVZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 1093969-1094003;M1;1094004-1094014 | 4 | 1 | 79 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 11 | 85 | 19741 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1264 | mutation | K.AQF:GDKPSEGRPR.R | S | F | 44 | 3 | 1 | POLR2E | P19388 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-DNA-directed-RNA-polymerase;Host-virus-interaction;-Nucleus;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr19 | 1093969-1094003;M1;1094004-1094014 | 4 | 1 | 79 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | S->F(indbSNP:rs12459404). | 11 | 85 | 19741 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1264 | mutation | K.AQF:GDKPSEGRPR.R | S | F | 44 | 3 | 1 | POLR2E | A0A0A0MQR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 1093969-1094003;M1;1094004-1094014 | 4 | 1 | 79 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 11 | 85 | 19741 | Unknown | 3.20822513688 |
2108.16081529,5807.84483542 |
0.000000 |
| 1265 | mutation | R.M:EVMALVPPADCR.Y | T | M | 209 | 1 | 1 | GAMT | Q14353 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Methyltransferase;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr19 | 1397402-1397442;M1;1397443-1397447 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs17851582). | 1 | 6 | 702 | Unknown | 0.795731103326 |
4832.70256402,5807.84483542 |
1.584963 |
| 1266 | mutation | K.LLESGDLSMSSV:K.V | I | V | 1072 | 12 | 1 | AP3D1 | O14617 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Golgi-apparatus;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr19 | 2109148-2109156;M1;2109157-2109193 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs25673). | 20 | 12 | 2474 | Unknown | 2.36305342773 |
3046.28754078,5807.84483542 |
0.000000 |
| 1266 | mutation | K.LLESGDLSMSSV:K.V | I | V | 109 | 12 | 1 | AP3D1 | K7ELX8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7ELX8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 2109148-2109156;M1;2109157-2109193 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 20 | 12 | 2474 | Unknown | 2.36305342773 |
3046.28754078,5807.84483542 |
0.000000 |
| 1267 | mutation | K.NC:LSLAPLFFK.L | Y | C | 218 | 2 | 1 | AP3D1 | O14617 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Golgi-apparatus;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr19 | 2129364-2129395;M1;2129396-2129403 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 1 | 250 | Unknown | 2.36305342773 |
3046.28754078,5807.84483542 |
0.000000 |
| 1267 | mutation | K.NC:LSLAPLFFK.L | Y | C | 45 | 2 | 1 | AP3D1 | A0A087WYN6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Protein-transport-{ECO:0000256|SAAS:SAAS00468902};Proteomics-identification-{ECO:0000213|EPD:A0A087WYN6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 2129364-2129395;M1;2129396-2129403 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 1 | 250 | Unknown | 2.36305342773 |
3046.28754078,5807.84483542 |
0.000000 |
| 1268 | mutation | K.IWCFGPDGTGPNILTDV:TKGVQ.Y | I | V | 665 | 17 | 1 | EEF2 | P13639 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Elongation-factor;GTP-binding;-Isopeptide-bond;-Methylation;-Neurodegeneration;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Protein-biosynthesis;Reference-proteome;-Spinocerebellar-ataxia;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 3977870-3977890;M1;3977891-3977942 | 1 | 9 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 2 | 500 | Unknown | 5.95513962799 |
623.682179643,5807.84483542 |
0.000000 |
| 1269 | mutation | R.WLPAGDALLQMITT:HLPSPVTAQK.Y | I | T | 356 | 14 | 1 | EEF2 | P13639 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Elongation-factor;GTP-binding;-Isopeptide-bond;-Methylation;-Neurodegeneration;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Protein-biosynthesis;Reference-proteome;-Spinocerebellar-ataxia;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 3980887-3980921;M1;3980922-3980965 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 1 | 1 | 250 | Unknown | 5.95513962799 |
623.682179643,5807.84483542 |
0 |
| 1270 | mutation | R.EDTGLLT:TTHGPEEAPR.L | A | T | 1124 | 7 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4510524-4510559;M1;4510560-4510581 | 2 | 9 | 25 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs7251858). | 34 | 25 | 278 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.321928 |
| 1270 | mutation | R.EDTGLLT:TTHGPEEAPR.L | A | T | 1139 | 7 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4510524-4510559;M1;4510560-4510581 | 2 | 9 | 25 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 34 | 25 | 278 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.321928 |
| 1271 | mutation | K.DT:VSTGLTGAVNLAK.G | A | T | 883 | 2 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4511238-4511282;M1;4511283-4511289 | 2 | 17 | 21 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 24 | 299 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
1.598079 |
| 1271 | mutation | K.DT:VSTGLTGAVNLAK.G | A | T | 898 | 2 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4511238-4511282;M1;4511283-4511289 | 2 | 17 | 21 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 24 | 299 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
1.598079 |
| 1272 | mutation | K.NTLGSGVTGAAN:VAK.G | K | N | 860 | 12 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4511337-4511349;M1;4511350-4511388 | 2 | 18 | 27 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | K->N(indbSNP:rs7259721). | 18 | 56 | 634 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.199821 |
| 1272 | mutation | K.NTLGSGVTGAAN:VAK.G | K | N | 875 | 12 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4511337-4511349;M1;4511350-4511388 | 2 | 18 | 27 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 18 | 56 | 634 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.199821 |
| 1273 | mutation | K.DTVCSGVTGAAK:.V | N | K | 464 | 12 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4511742-4511745;M1;4511746-4511784 | 2 | 23 | 9 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 25 | 249 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.226423 |
| 1273 | mutation | K.DTVCSGVTGAAK:.V | N | K | 479 | 12 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4511742-4511745;M1;4511746-4511784 | 2 | 23 | 9 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 25 | 249 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.226423 |
| 1274 | mutation | K.NTFGSGVTG:AVNVAK.G | S | G | 659 | 9 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4511931-4511954;M1;4511955-4511982 | 2 | 26 | 20 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs7260518). | 3 | 50 | 447 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.069309 |
| 1274 | mutation | K.NTFGSGVTG:AVNVAK.G | S | G | 674 | 9 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4511931-4511954;M1;4511955-4511982 | 2 | 26 | 20 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 50 | 447 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.069309 |
| 1275 | mutation | K.DA:VCSGVTGAMNLAR.G | T | A | 421 | 2 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4512624-4512668;M1;4512669-4512675 | 2 | 26 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs55901236). | 6 | 26 | 232 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
0.000000 |
| 1275 | mutation | K.DA:VCSGVTGAMNLAR.G | T | A | 436 | 2 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4512624-4512668;M1;4512669-4512675 | 2 | 26 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 26 | 232 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
0.000000 |
| 1276 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 263 | 9 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4512921-4512944;M1;4512945-4512972 | 2 | 24 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
0.000000 |
| 1276 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 278 | 9 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4512921-4512944;M1;4512945-4512972 | 2 | 24 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
0.000000 |
| 1277 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 263 | 9 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4513020-4513043;M1;4513044-4513071 | 2 | 22 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.325449 |
| 1277 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 278 | 9 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4513020-4513043;M1;4513044-4513071 | 2 | 22 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.325449 |
| 1278 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 263 | 9 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4513119-4513142;M1;4513143-4513170 | 2 | 21 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.053655 |
| 1278 | mutation | K.DTVCSGVTS:AMNVAK.G | G | S | 278 | 9 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4513119-4513142;M1;4513143-4513170 | 2 | 21 | 24 | 3 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 0 | 0 | 0 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
2.053655 |
| 1279 | mutation | K.EA:VSSGVTGAMDMAK.G | V | A | 124 | 2 | 1 | PLIN4 | Q96Q06 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Lipid-droplet;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 4513515-4513558;M1;4513559-4513566 | 2 | 18 | 14 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs4807597). | 18 | 56 | 426 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
1.750698 |
| 1279 | mutation | K.EA:VSSGVTGAMDMAK.G | V | A | 139 | 2 | 1 | PLIN4 | A0A0J9YXN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0J9YXN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 4513515-4513558;M1;4513559-4513566 | 2 | 18 | 14 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 18 | 56 | 426 | Unknown | 0.99498126227 |
3798.69840507,5807.84483542 |
1.750698 |
| 1280 | mutation | R.NALTGLPS:GLFQASATLDTLVLK.E | P | S | 133 | 8 | 2 | LRG1 | P02750 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Glycoprotein;-Leucine-rich-repeat;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr19 | 4538548-4538598;M1;4538599-4538623 | 2 | 10 | 46 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs966384). | 63 | 25 | 2064 | Unknown | 3.53908198875 |
1799.3945491,5807.84483542 |
3.095134 |
| 1281 | mutation | R.AQEALLQLSQA:LSL:METVK.Q | V | A | 275 | 11 | 1 | PLIN3 | O60664 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Endosome;-Isopeptide-bond;-Lipid-droplet;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transport; | Intracellular | Atlas | chr19 | 4844787-4844805;4847702-4847712;M1;4847713-4847747 | 2 | 4 | 186 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs9973235). | 86 | 65 | 11090 | Unknown | 4.39777275888 |
1183.92511218,5807.84483542 |
1.355156 |
| 1282 | mutation | R.AGVTCII:LPAENK.K | V | I | 911 | 7 | 1 | LONP1 | P36776 | 3D-structure;-Alternative-splicing;-ATP-binding;-Cataract;Complete-proteome;-Deafness;-Disease-mutation;-DNA-binding;-Dwarfism;Hydrolase;-Mitochondrion;-Nucleotide-binding;-Polymorphism;-Protease;Reference-proteome;-Serine-protease;-Transit-peptide. | Intracellular | Atlas | chr19 | 5692168-5692191;M1;5692192-5692213 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs1062373). | 3 | 2 | 391 | Unknown | 3.57836292564 |
1794.14438474,5807.84483542 |
0.000000 |
| 1282 | mutation | R.AGVTCII:LPAENK.K | V | I | 797 | 7 | 1 | LONP1 | K7EKE6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKE6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|HAMAP-Rule:MF_03120,Transit-peptide-{ECO:0000256|HAMAP-Rule:MF_03120}. | Intracellular | Atlas | chr19 | 5692168-5692191;M1;5692192-5692213 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 2 | 391 | Unknown | 3.57836292564 |
1794.14438474,5807.84483542 |
0.000000 |
| 1282 | mutation | R.AGVTCII:LPAENK.K | V | I | 781 | 7 | 1 | LONP1 | K7EJE8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EJE8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Serine-protease-{ECO:0000256|HAMAP-Rule:MF_03120,Transit-peptide-{ECO:0000256|HAMAP-Rule:MF_03120}. | Intracellular | Atlas | chr19 | 5692168-5692191;M1;5692192-5692213 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 2 | 391 | Unknown | 3.57836292564 |
1794.14438474,5807.84483542 |
0.000000 |
| 1283 | mutation | R.FAGAHLG:PEGQNLVQEELAAR.G | R | G | 185 | 7 | 1 | DUS3L | Q96G46 | Acetylation;-Alternative-splicing;-Complete-proteome;-Flavoprotein;FMN;-Metal-binding;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-tRNA-processing;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr19 | 5789517-5789564;M1;5789565-5789586 | 1 | 5 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs2436487). | 55 | 35 | 2408 | Unknown | -0.250962225358 |
6080.96213343,5807.84483542 |
1.795456 |
| 1284 | mutation | R.DGS:GSLDADEFR.Q | R | G | 39 | 4 | 2 | CAPS | K7ES72 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7ES72,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 5914592-5914604;M1;5914605-5914634 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 2 | 393 | Unknown | 4.02398340345 |
1414.03072747,5807.84483542 |
0.000000 |
| 1284 | mutation | R.DGS:GSLDADEFR.Q | R | G | 125 | 4 | 2 | CAPS | K7EL21 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7EL21,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 5914592-5914604;M1;5914605-5914634 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 2 | 393 | Unknown | 4.02398340345 |
1414.03072747,5807.84483542 |
0.000000 |
| 1284 | mutation | R.DGS:GSLDADEFR.Q | R | G | 39 | 4 | 2 | CAPS | Q13938 | 3D-structure;-Alternative-splicing;-Calcium;-Complete-proteome;Cytoplasm;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr19 | 5914592-5914604;M1;5914605-5914634 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs7249419). | 1 | 2 | 393 | Unknown | 4.02398340345 |
1414.03072747,5807.84483542 |
0.000000 |
| 1285 | mutation | L.TTPA:YGDLNHLVSATMSGVTTCLR.F | T | A | 117 | 4 | 1 | TUBB4A | M0R2D3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:M0R2D3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 6495783-6495848;M1;6495849-6495861 | 1 | 7 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 1 | 6 | Unknown | 4.5341263035 |
1111.10615927,5807.84483542 |
0.000000 |
| 1285 | mutation | L.TTPA:YGDLNHLVSATMSGVTTCLR.F | T | A | 221 | 4 | 1 | TUBB4A | P04350 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Dystonia;-GTP-binding;-Isopeptide-bond;Leukodystrophy;-Microtubule;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr19 | 6495783-6495848;M1;6495849-6495861 | 1 | 7 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 1 | 6 | Unknown | 4.5341263035 |
1111.10615927,5807.84483542 |
0.000000 |
| 1286 | mutation | K.VFLDCCNYITELW:R.Q | R | W | 735 | 13 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6707120-6707128;M1;6707129-6707168 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | R->W(inAHUS5;dbSNP:rs117793540). | 3 | 1 | 250 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0.000000 |
| 1287 | mutation | K.DSCVGL::LVVK.S | S | L | 562 | 6 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6709838-6709853;6710649-6710650;M1;6710651-6710670 | 1 | 12 | 2 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 250 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0.000000 |
| 1288 | mutation | R.TELRPGD:TLNVNFLLR.M | E | D | 469 | 7 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6711039-6711069;M1;6711070-6711093 | 1 | 6 | 9 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs11569422). | 15 | 1 | 250 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0.000000 |
| 1289 | mutation | R.VPVAVQGEDTVQSLTE:GDGVAK.L | Q | E | 402 | 16 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6712309-6712332;M1;6712333-6712381 | 1 | 3 | 5 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0 |
| 1290 | mutation | R.KVLLDGVQNL:R.A | P | L | 314 | 10 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6713254-6713261;M1;6713262-6713293 | 2 | 4 | 32 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs1047286). | 54 | 15 | 3290 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0.000000 |
| 1291 | mutation | K.VEGTAFVIFGIQDGK:.Q | E | K | 279 | 15 | 1 | C3 | P01024 | 3D-structure;-Age-related-macular-degeneration;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Fatty-acid-metabolism;-Glycoprotein;Hemolytic-uremic-syndrome;-Immunity;-Inflammatory-response;Innate-immunity;-Lipid-metabolism;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Thioester-bond. | Intracellular | Atlas | chr19 | 6713453-6713458;M1;6713459-6713504 | 1 | 2 | 1 | 1 | -1 | 1 | 2 | 190 | 200 | 10 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 29 | Unknown | 5.82987035543 |
649.249549573,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 120 | 20 | 2 | STXBP2 | Q15833 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Exocytosis;-Polymorphism;-Protein-transport;Reference-proteome;-Transport. | Intracellular | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Unknown | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 120 | 20 | 2 | STXBP2 | M0R0M7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R0M7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Unknown | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 88 | 20 | 2 | STXBP2 | M0QZ54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QZ54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Unknown | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 307 | 20 | 2 | STXBP2 | A0A087WUN8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUN8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Targetable-Peptide | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 104 | 20 | 2 | STXBP2 | M0R118 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R118,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Unknown | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1292 | mutation | K.AAHIFFTD:TCPEPLFSELG:H.S | R | H | 120 | 20 | 2 | STXBP2 | A0A087WWS7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWS7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 7705667-7705695;7705785-7705818;M1;7705819-7705823 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 247 | Unknown | 3.02547295413 |
2303.8653685,5807.84483542 |
0.000000 |
| 1295 | mutation | R.T:HIPDSDQSTMSPDIITEVITR.L | I | T | 9920 | 1 | 1 | MUC16 | B5ME49 | Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 9057619-9057686;M1;9057687-9057691 | 2 | 0 | 24 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 1 | 66 | 5966 | Targetable | -0.600270940673 |
6624.31010146,5807.84483542 |
0.000000 |
| 1296 | mutation | R.LTTLEDTVDTEA:MQPSTHTAVTNVR.T | D | A | 8344 | 12 | 1 | MUC16 | B5ME49 | Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 9062371-9062414;M1;9062415-9062452 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 150 | 115 | -35 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 54 | 4280 | Targetable | -0.600270940673 |
6624.31010146,5807.84483542 |
0.000000 |
| 1297 | mutation | K.VPTGTITEVSSTGVI:SSSK.I | N | I | 5228 | 15 | 1 | MUC16 | B5ME49 | Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 9071746-9071762;M1;9071763-9071809 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 80 | 7796 | Targetable | -0.600270940673 |
6624.31010146,5807.84483542 |
0.000000 |
| 1298 | mutation | R.DVSPYMDTSSTTQTSF:ISSPGSTAITK.G | I | F | 4034 | 16 | 1 | MUC16 | B5ME49 | Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 9075307-9075345;M1;9075346-9075394 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 175 | 210 | 35 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 43 | 2435 | Targetable | -0.600270940673 |
6624.31010146,5807.84483542 |
0.000000 |
| 1299 | mutation | R.SITGTGQQSSPELVL:K.T | S | L | 3337 | 15 | 1 | MUC16 | B5ME49 | Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 9077428-9077435;M1;9077436-9077482 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 28 | 2216 | Targetable | -0.600270940673 |
6624.31010146,5807.84483542 |
0.000000 |
| 1300 | mutation | R.VLEVDTQGTVVCSLD:R.L | G | R | 241 | 16 | 1 | ICAM1 | P05362 | 3D-structure;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Host-virus-interaction;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Signal;-Transmembrane;Transmembrane-helix;-Ubl-conjugation. | Membrane-Bound | Atlas | chr19 | 10394743-10394791;M1;10394792-10394797 | 1 | 9 | 2 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | G->R(indbSNP:rs1799969). | 3 | 16 | 1604 | Targetable | 2.56722235866 |
2715.17397917,5807.84483542 |
0.000000 |
| 1301 | mutation | R.RAPEEELL:PLDPEEIR.K | P | L | 54 | 8 | 1 | RAVER1 | E9PAU2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PAU2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10444045-10444073;M1;10444074-10444099 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 241 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0.000000 |
| 1301 | mutation | R.RAPEEELL:PLDPEEIR.K | P | L | 37 | 8 | 1 | RAVER1 | A0A087WZ13 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZ13,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10444045-10444073;M1;10444074-10444099 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 241 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0.000000 |
| 1301 | mutation | R.RAPEEELL:PLDPEEIR.K | P | L | 37 | 8 | 1 | RAVER1 | Q8IY67 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Nucleus;-Phosphoprotein;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr19 | 10444045-10444073;M1;10444074-10444099 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 241 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0.000000 |
| 1301 | mutation | R.RAPEEELL:PLDPEEIR.K | P | L | 32 | 8 | 1 | RAVER1 | K7EKR9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKR9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10444045-10444073;M1;10444074-10444099 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 241 | Unknown | 2.42829433266 |
2951.55706806,5807.84483542 |
0.000000 |
| 1302 | mutation | Q.SV:VNTKPEKTEEDSEEVR.- | M | V | 179 | 2 | 1 | CDC37 | K7EKQ2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKQ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 10506165-10506215;M1;10506216-10506222 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 3 | 271 | Unknown | 4.18610850202 |
1315.02943748,5807.84483542 |
0 |
| 1303 | mutation | K.LIQ:LVNAQ:QAK.G | R | Q | 337 | 3 | 1 | MAN2B1 | O00754 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Metal-binding;-Polymorphism;-Reference-proteome;Signal;-Zinc;-Zymogen. | Intracellular | Atlas | chr19 | 12769312-12769324;12772073-12772089;M1;12772090-12772100 | 2 | 2 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs1133330). | 3 | 45 | 10261 | Unknown | 1.56667359944 |
4014.44424846,5807.84483542 |
0.000000 |
| 1304 | mutation | R.NLCWDVLCVDQPV:VEDPR.S | L | V | 278 | 13 | 1 | MAN2B1 | O00754 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Metal-binding;-Polymorphism;-Reference-proteome;Signal;-Zinc;-Zymogen. | Intracellular | Atlas | chr19 | 12774187-12774207;M1;12774208-12774247 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs1054486). | 6 | 32 | 5902 | Unknown | 1.56667359944 |
4014.44424846,5807.84483542 |
0.000000 |
| 1305 | mutation | K.IDN:TQVESGSLEDDWDFLPPKK.I | S | T | 121 | 4 | 1 | CALR | K7EJB9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|RuleBase:RU362126};Proteomics-identification-{ECO:0000213|EPD:K7EJB9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 13051116-13051129;M1;13051130-13051188 | 1 | 30 | 20 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 38 | 1 | 250 | Unknown | 6.54017841453 |
564.8185599,5807.84483542 |
0.000000 |
| 1305 | mutation | K.IDN:TQVESGSLEDDWDFLPPKK.I | S | T | 189 | 4 | 1 | CALR | P27797 | 3D-structure;-Acetylation;-Calcium;-Chaperone;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disulfide-bond;Endoplasmic-reticulum;-Extracellular-matrix;-Glycoprotein;-Lectin;Metal-binding;-Reference-proteome;-Repeat;-Sarcoplasmic-reticulum;Secreted;-Signal;-Zinc. | Intracellular | Atlas | chr19 | 13051116-13051129;M1;13051130-13051188 | 1 | 30 | 20 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 38 | 1 | 250 | Unknown | 6.54017841453 |
564.8185599,5807.84483542 |
0.000000 |
| 1306 | mutation | -.IREPLTAQQLE:MTTER.W | T | M | 801 | 11 | 1 | CC2D1A | Q6P1N0 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-DNA-binding;-Mental-retardation;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repressor;Transcription;-Transcription-regulation. | Intracellular | Atlas | chr19 | 14038756-14038790;M1;14038791-14038807 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs2305777). | 1 | 28 | 3747 | Unknown | 1.11154204923 |
4484.6024343,5807.84483542 |
1.233985 |
| 1306 | mutation | -.IREPLTAQQLE:MTTER.W | T | M | 256 | 11 | 1 | CC2D1A | K7EMP1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EMP1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 14038756-14038790;M1;14038791-14038807 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 28 | 3747 | Unknown | 1.11154204923 |
4484.6024343,5807.84483542 |
1.233985 |
| 1307 | mutation | K.NAQMAQSPV:LLLGGAASTLLQ:NR.G | I | V | 143 | 9 | 1 | ILVBL | E9PJS0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PJS0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 15233832-15233841;15233926-15233964;M1;15233965-15233992 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 180 | Intra-Cellular-Peptide | 2.94174910884 |
2305.24404688,5807.84483542 |
0.000000 |
| 1307 | mutation | K.NAQMAQSPV:LLLGGAASTLLQ:NR.G | I | V | 143 | 9 | 1 | ILVBL | A1L0T0 | Complete-proteome;-Magnesium;-Membrane;-Metal-binding;-Polymorphism;Reference-proteome;-Thiamine-pyrophosphate;-Transferase;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr19 | 15233832-15233841;15233926-15233964;M1;15233965-15233992 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 180 | Intra-Cellular-Peptide | 2.94174910884 |
2305.24404688,5807.84483542 |
0.000000 |
| 1307 | mutation | K.NAQMAQSPV:LLLGGAASTLLQ:NR.G | I | V | 36 | 9 | 1 | ILVBL | M0R1B5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R1B5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 15233832-15233841;15233926-15233964;M1;15233965-15233992 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 180 | Unknown | 2.94174910884 |
2305.24404688,5807.84483542 |
0.000000 |
| 1307 | mutation | K.NAQMAQSPV:LLLGGAASTLLQ:NR.G | I | V | 36 | 9 | 1 | ILVBL | M0R026 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R026,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Thiamine-pyrophosphate-{ECO:0000256|RuleBase:RU362132}. | Intracellular | Atlas | chr19 | 15233832-15233841;15233926-15233964;M1;15233965-15233992 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 180 | Unknown | 2.94174910884 |
2305.24404688,5807.84483542 |
0.000000 |
| 1307 | mutation | K.NAQMAQSPV:LLLGGAASTLLQ:NR.G | I | V | 143 | 9 | 1 | ILVBL | E9PL44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PL44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 15233832-15233841;15233926-15233964;M1;15233965-15233992 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 1 | 180 | Intra-Cellular-Peptide | 2.94174910884 |
2305.24404688,5807.84483542 |
0.000000 |
| 1308 | mutation | K.TVEDLDGLIQ:QIYR.D | H | Q | 458 | 10 | 1 | AKAP8L | Q9ULX6 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Metal-binding;-mRNA-processing;-mRNA-splicing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transcription;-Transcription-regulation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr19 | 15508346-15508361;M1;15508362-15508394 | 2 | 1 | 58 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | H->Q(indbSNP:rs2058322). | 73 | 85 | 15972 | Unknown | 1.05232808249 |
4705.27339774,5807.84483542 |
0.000000 |
| 1309 | mutation | K.Q:SAAELDLVLQR.H | L | S | 151 | 2 | 1 | USE1 | G8JLK1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G8JLK1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 17330052-17330059;M1;17330060-17330094 | 1 | 1 | 11 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | - | 33 | 67 | 12803 | Targetable-Peptide | 1.31693589236 |
4258.19949909,5807.84483542 |
0.000000 |
| 1309 | mutation | K.Q:SAAELDLVLQR.H | L | S | 113 | 2 | 1 | USE1 | M0QYT5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QYT5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 17330052-17330059;M1;17330060-17330094 | 1 | 1 | 11 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | - | 33 | 67 | 12803 | Unknown | 1.31693589236 |
4258.19949909,5807.84483542 |
0.000000 |
| 1309 | mutation | K.Q:SAAELDLVLQR.H | L | S | 154 | 2 | 1 | USE1 | Q9NZ43 | Alternative-splicing;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-Endoplasmic-reticulum;-ER-Golgi-transport;Membrane;-Polymorphism;-Protein-transport;-Reference-proteome;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr19 | 17330052-17330059;M1;17330060-17330094 | 1 | 1 | 11 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | L->S(indbSNP:rs414528). | 33 | 67 | 12803 | Lumenal | 1.31693589236 |
4258.19949909,5807.84483542 |
0.000000 |
| 1310 | mutation | R.SG:AHVVVTGPPNAGK.S | V | A | 250 | 3 | 1 | GTPBP3 | Q969Y2 | Alternative-splicing;-Cardiomyopathy;-Complete-proteome;Disease-mutation;-GTP-binding;-Mitochondrion;-Nucleotide-binding;Polymorphism;-Reference-proteome;-Transit-peptide;-tRNA-processing. | Intracellular | Atlas | chr19 | 17450005-17450015;M1;17450016-17450056 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs3810206). | 21 | 59 | 3531 | Unknown | -0.253623906933 |
6008.53131145,5807.84483542 |
2.338622 |
| 1311 | mutation | R.TLA:CVCALLVWHPAGPGEK.V | S | C | 411 | 4 | 1 | MAP1S | Q66K74 | Alternative-splicing;-Apoptosis;-Complete-proteome;-Cytoplasm;Cytoskeleton;-DNA-binding;-Microtubule;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr19 | 17837411-17837424;M1;17837425-17837474 | 1 | 21 | 1 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | S->C(indbSNP:rs17710707). | 3 | 18 | 2980 | Unknown | 2.6309479609 |
2752.75289313,5807.84483542 |
0.000000 |
| 1312 | mutation | R.VLFPGCTPPA:YLLDGLVR.L | C | Y | 440 | 11 | 1 | MAP1S | Q66K74 | Alternative-splicing;-Apoptosis;-Complete-proteome;-Cytoplasm;Cytoskeleton;-DNA-binding;-Microtubule;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr19 | 17837477-17837511;M1;17837512-17837537 | 2 | 21 | 13 | 1 | 0 | 0 | 0 | 135 | 230 | 95 | -1.300000 | -2.300000 | - | 24 | 36 | 5544 | Unknown | 2.6309479609 |
2752.75289313,5807.84483542 |
0.000000 |
| 1313 | mutation | R.EFLAAMEPEPAPV:PAPEEWLDILG:NGLLR.K | A | V | 87 | 13 | 1 | FKBP8 | Q14318 | 3D-structure;-Alternative-splicing;-Apoptosis;-Calcium;Complete-proteome;-Host-virus-interaction;-Isomerase;-Isopeptide-bond;Membrane;-Metal-binding;-Mitochondrion;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Rotamase;-TPR-repeat;-Transmembrane;Transmembrane-helix;-Ubl-conjugation. | Membrane-Bound | Atlas | chr19 | 18650510-18650530;18652488-18652520;M1;18652521-18652561 | 1 | 3 | 27 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs11574806). | 46 | 4 | 1000 | Targetable-Peptide | 2.89571278191 |
2416.10629181,5807.84483542 |
0.000000 |
| 1313 | mutation | R.EFLAAMEPEPAPV:PAPEEWLDILG:NGLLR.K | A | V | 87 | 13 | 1 | FKBP8 | M0R2Q6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R2Q6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 18650510-18650530;18652488-18652520;M1;18652521-18652561 | 1 | 3 | 27 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 46 | 4 | 1000 | Unknown | 2.89571278191 |
2416.10629181,5807.84483542 |
0.000000 |
| 1313 | mutation | R.EFLAAMEPEPAPV:PAPEEWLDILG:NGLLR.K | A | V | 87 | 13 | 1 | FKBP8 | M0R1Q0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R1Q0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 18650510-18650530;18652488-18652520;M1;18652521-18652561 | 1 | 3 | 27 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 46 | 4 | 1000 | Unknown | 2.89571278191 |
2416.10629181,5807.84483542 |
0.000000 |
| 1313 | mutation | R.EFLAAMEPEPAPV:PAPEEWLDILG:NGLLR.K | A | V | 87 | 13 | 1 | FKBP8 | M0R2K9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R2K9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 18650510-18650530;18652488-18652520;M1;18652521-18652561 | 1 | 3 | 27 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 46 | 4 | 1000 | Unknown | 2.89571278191 |
2416.10629181,5807.84483542 |
0.000000 |
| 1313 | mutation | R.EFLAAMEPEPAPV:PAPEEWLDILG:NGLLR.K | A | V | 87 | 13 | 1 | FKBP8 | M0R1S6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R1S6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 18650510-18650530;18652488-18652520;M1;18652521-18652561 | 1 | 3 | 27 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 46 | 4 | 1000 | Unknown | 2.89571278191 |
2416.10629181,5807.84483542 |
0.000000 |
| 1314 | mutation | P.GPASGGC:GEVDELFDVK.N | S | C | 13 | 7 | 2 | COPE | M0QXB4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QXB4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 19030085-19030119;M1;19030120-19030142 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 5 | 1248 | Unknown | 4.42867829292 |
1174.69674298,5807.84483542 |
0.000000 |
| 1314 | mutation | P.GPASGGC:GEVDELFDVK.N | S | C | 13 | 7 | 2 | COPE | M0R061 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R061,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 19030085-19030119;M1;19030120-19030142 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 5 | 1248 | Unknown | 4.42867829292 |
1174.69674298,5807.84483542 |
0.000000 |
| 1314 | mutation | P.GPASGGC:GEVDELFDVK.N | S | C | 13 | 7 | 2 | COPE | O14579 | Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoplasmic-vesicle;-Direct-protein-sequencing;-ER-Golgi-transport;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 19030085-19030119;M1;19030120-19030142 | 2 | 2 | 2 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | S->C(indbSNP:rs2231987). | 3 | 5 | 1248 | Unknown | 4.42867829292 |
1174.69674298,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 223 | 14 | 1 | GPI | A0A0A0MTS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 208 | 14 | 1 | GPI | P06744 | 3D-structure;-Acetylation;-Alternative-splicing;-Angiogenesis;Complete-proteome;-Cytokine;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Gluconeogenesis;-Glycolysis;-Growth-factor;Hereditary-hemolytic-anemia;-Isomerase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs8191371). | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 219 | 14 | 1 | GPI | A0A0J9YX90 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YX90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 208 | 14 | 1 | GPI | A0A0J9YXP8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YXP8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 223 | 14 | 1 | GPI | A0A0J9YYH3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YYH3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1315 | mutation | K.TLAQLNPESSLFI:TASK:.T | I | T | 208 | 14 | 1 | GPI | K7EQ48 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EQ48,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34868732-34868775;M1;34868776-34868786;34869838-34869841 | 2 | 7 | 74 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 18 | 5 | 1003 | Unknown | 5.62297539575 |
705.362841972,5807.84483542 |
0.000000 |
| 1316 | mutation | K.DVEFEVVGDA:LEK.V | P | L | 551 | 11 | 1 | UBA2 | Q9UBT2 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Cytoplasm;-Isopeptide-bond;-Ligase;-Metal-binding;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation;-Ubl-conjugation-pathway;-Zinc. | Intracellular | Atlas | chr19 | 34957795-34957829;M1;34957830-34957840 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 5 | 956 | Unknown | 3.81004673181 |
1602.45551342,5807.84483542 |
0.000000 |
| 1316 | mutation | K.DVEFEVVGDA:LEK.V | P | L | 77 | 11 | 1 | UBA2 | U3KQ93 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:U3KQ93,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 34957795-34957829;M1;34957830-34957840 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 15 | 5 | 956 | Unknown | 3.81004673181 |
1602.45551342,5807.84483542 |
0.000000 |
| 1317 | mutation | R.:NSS:AGGQGSYVPLLR.D | S | N | 363 | 1 | 1 | LSR | Q86X29 | Alternative-splicing;-Cell-membrane;-Chylomicron;-Complete-proteome;Disulfide-bond;-Immunoglobulin-domain;-LDL;-Membrane;-Phosphoprotein;Polymorphism;-Receptor;-Reference-proteome;-Transmembrane;Transmembrane-helix;-VLDL. | Membrane-Bound | Atlas | chr19 | 35757422-35757426;M1;35757427-35757435;35757581-35757619 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs34259399). | 1 | 35 | 4786 | Intra-Cellular-Peptide | 1.4853126083 |
4102.31817632,5807.84483542 |
0.000000 |
| 1317 | mutation | R.:NSS:AGGQGSYVPLLR.D | S | N | 315 | 1 | 1 | LSR | S4R3V8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3V8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 35757422-35757426;M1;35757427-35757435;35757581-35757619 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 35 | 4786 | Targetable-Peptide | 1.4853126083 |
4102.31817632,5807.84483542 |
0.000000 |
| 1318 | mutation | K.ACLISLGYD:MENDR.Q | V | M | 801 | 10 | 1 | ACTN4 | O43707 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Calcium;-Cell-junction;-Complete-proteome;-Cytoplasm;Disease-mutation;-Isopeptide-bond;-Metal-binding;-Nucleus;Phosphoprotein;-Protein-transport;-Reference-proteome;-Repeat;Transport;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 39218618-39218648;M1;39218649-39218666 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs141727248). | 1 | 1 | 247 | Unknown | 6.12764596515 |
605.469244352,5807.84483542 |
0.000000 |
| 1318 | mutation | K.ACLISLGYD:MENDR.Q | V | M | 411 | 10 | 1 | ACTN4 | F5GXS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GXS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 39218618-39218648;M1;39218649-39218666 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 247 | Unknown | 6.12764596515 |
605.469244352,5807.84483542 |
0.000000 |
| 1319 | mutation | R.MAPYQGP:EAVPGALDYK.S | D | E | 321 | 8 | 1 | ACTN4 | H7C144 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C144,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 39219979-39220005;M1;39220006-39220036 | 2 | 2 | 36 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 36 | 1 | 250 | Unknown | 6.12764596515 |
605.469244352,5807.84483542 |
0.000000 |
| 1319 | mutation | R.MAPYQGP:EAVPGALDYK.S | D | E | 890 | 8 | 1 | ACTN4 | O43707 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Calcium;-Cell-junction;-Complete-proteome;-Cytoplasm;Disease-mutation;-Isopeptide-bond;-Metal-binding;-Nucleus;Phosphoprotein;-Protein-transport;-Reference-proteome;-Repeat;Transport;-Ubl-conjugation. | Intracellular | Atlas | chr19 | 39219979-39220005;M1;39220006-39220036 | 2 | 2 | 36 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 36 | 1 | 250 | Unknown | 6.12764596515 |
605.469244352,5807.84483542 |
0.000000 |
| 1319 | mutation | R.MAPYQGP:EAVPGALDYK.S | D | E | 500 | 8 | 1 | ACTN4 | F5GXS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GXS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 39219979-39220005;M1;39220006-39220036 | 2 | 2 | 36 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 36 | 1 | 250 | Unknown | 6.12764596515 |
605.469244352,5807.84483542 |
0.000000 |
| 1320 | mutation | G.SSAQEA:ASGVALGEAPDHSYESLR.V | E | A | 41 | 6 | 2 | ECH1 | Q13011 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Fatty-acid-metabolism;-Isomerase;Lipid-metabolism;-Mitochondrion;-Peroxisome;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr19 | 39322028-39322086;M1;39322087-39322106 | 2 | 2 | 29 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | E->A(indbSNP:rs9419). | 48 | 59 | 14643 | Unknown | 4.23512402262 |
1251.02629945,5807.84483542 |
0.000000 |
| 1320 | mutation | G.SSAQEA:ASGVALGEAPDHSYESLR.V | E | A | 38 | 6 | 2 | ECH1 | M0R248 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0R248,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 39322028-39322086;M1;39322087-39322106 | 2 | 2 | 29 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 48 | 59 | 14643 | Unknown | 4.23512402262 |
1251.02629945,5807.84483542 |
0.000000 |
| 1320 | mutation | G.SSAQEA:ASGVALGEAPDHSYESLR.V | E | A | 41 | 6 | 2 | ECH1 | M0QZW4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QZW4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 39322028-39322086;M1;39322087-39322106 | 2 | 2 | 29 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 48 | 59 | 14643 | Unknown | 4.23512402262 |
1251.02629945,5807.84483542 |
0.000000 |
| 1321 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 1916 | 13 | 1 | FCGBP | A0A087WXI2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WXI2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 40368375-40368394;M1;40368395-40368435 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.106062 |
| 1321 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 781 | 13 | 1 | FCGBP | A0A087WUZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WUZ2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 40368375-40368394;M1;40368395-40368435 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.106062 |
| 1322 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 1916 | 13 | 1 | FCGBP | A0A087WXI2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WXI2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 40384634-40384653;M1;40384654-40384694 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.319811 |
| 1322 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 781 | 13 | 1 | FCGBP | A0A087WUZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WUZ2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 40384634-40384653;M1;40384654-40384694 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.319811 |
| 1323 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 1916 | 13 | 1 | FCGBP | A0A087WXI2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WXI2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 40400322-40400341;M1;40400342-40400382 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.752463 |
| 1323 | mutation | K.GCVLDVCMGGGDH:DILCK.A | R | H | 781 | 13 | 1 | FCGBP | A0A087WUZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WUZ2};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 40400322-40400341;M1;40400342-40400382 | 2 | 2 | 32 | 3 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 0 | 0 | 0 | Unknown | -0.763256336798 |
6533.56429946,5807.84483542 |
2.752463 |
| 1324 | mutation | R.EGDTVQLLC:QGDGSPSPEYTLFR.L | R | Q | 292 | 10 | 1 | BCAM | P50895 | 3D-structure;-Blood-group-antigen;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 45317467-45317498;M1;45317499-45317542 | 1 | 7 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Targetable | 4.55094291445 |
1084.97023201,5807.84483542 |
0 |
| 1324 | mutation | R.EGDTVQLLC:QGDGSPSPEYTLFR.L | R | Q | 271 | 10 | 1 | BCAM | K7ENU8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00504776};Proteomics-identification-{ECO:0000213|EPD:K7ENU8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 45317467-45317498;M1;45317499-45317542 | 1 | 7 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 4.55094291445 |
1084.97023201,5807.84483542 |
0 |
| 1324 | mutation | R.EGDTVQLLC:QGDGSPSPEYTLFR.L | R | Q | 292 | 10 | 1 | BCAM | A0A087WXM8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00504776};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00441151};Membrane-{ECO:0000256|SAAS:SAAS00555568,-ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|EPD:A0A087WXM8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00555568, | Membrane-Bound | Atlas | chr19 | 45317467-45317498;M1;45317499-45317542 | 1 | 7 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Targetable-Peptide | 4.55094291445 |
1084.97023201,5807.84483542 |
0 |
| 1325 | mutation | K.VTSALS:CDGISCEASNPHGNK.R | R | C | 517 | 7 | 1 | BCAM | P50895 | 3D-structure;-Blood-group-antigen;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr19 | 45322656-45322677;M1;45322678-45322725 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 1 | 250 | Targetable | 4.55094291445 |
1084.97023201,5807.84483542 |
0.000000 |
| 1325 | mutation | K.VTSALS:CDGISCEASNPHGNK.R | R | C | 517 | 7 | 1 | BCAM | A0A087WXM8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00504776};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00441151};Membrane-{ECO:0000256|SAAS:SAAS00555568,-ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|EPD:A0A087WXM8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00555568, | Membrane-Bound | Atlas | chr19 | 45322656-45322677;M1;45322678-45322725 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 1 | 250 | Targetable-Peptide | 4.55094291445 |
1084.97023201,5807.84483542 |
0.000000 |
| 1326 | mutation | R.ETDAHLANPVLPN:EVLQE:AVPGSIR.T | D | N | 20 | 13 | 1 | ERCC2 | K7EKF3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKF3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 45867143-45867169;45867243-45867258;M1;45867259-45867298 | 1 | 1 | 10 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 28 | 42 | 3569 | Unknown | 0.271275891473 |
5434.52290527,5807.84483542 |
1.683170 |
| 1326 | mutation | R.ETDAHLANPVLPN:EVLQE:AVPGSIR.T | D | N | 288 | 13 | 1 | ERCC2 | A8MX75 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8MX75,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 45867143-45867169;45867243-45867258;M1;45867259-45867298 | 1 | 1 | 10 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 28 | 42 | 3569 | Unknown | 0.271275891473 |
5434.52290527,5807.84483542 |
1.683170 |
| 1326 | mutation | R.ETDAHLANPVLPN:EVLQE:AVPGSIR.T | D | N | 312 | 13 | 1 | ERCC2 | P18074 | 3D-structure;-4Fe-4S;-Alternative-splicing;-ATP-binding;-Cataract;Chromosome-partition;-Cockayne-syndrome;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Disease-mutation;-DNA-damage;-DNA-repair;DNA-binding;-Dwarfism;-Helicase;-Host-virus-interaction;-Hydrolase;Ichthyosis;-Iron;-Iron-sulfur;-Magnesium;-Metal-binding;Nucleotide-binding;-Nucleus;-Polymorphism;-Reference-proteome;Transcription;-Transcription-regulation;-Ubl-conjugation; | Intracellular | Atlas | chr19 | 45867143-45867169;45867243-45867258;M1;45867259-45867298 | 1 | 1 | 10 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(indbSNP:rs1799793). | 28 | 42 | 3569 | Unknown | 0.271275891473 |
5434.52290527,5807.84483542 |
1.683170 |
| 1326 | mutation | R.ETDAHLANPVLPN:EVLQE:AVPGSIR.T | D | N | 234 | 13 | 1 | ERCC2 | E7EVE9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVE9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 45867143-45867169;45867243-45867258;M1;45867259-45867298 | 1 | 1 | 10 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 28 | 42 | 3569 | Unknown | 0.271275891473 |
5434.52290527,5807.84483542 |
1.683170 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 84 | 9 | 1 | EML2 | K7EKG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 6 | 391 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 235 | 9 | 1 | EML2 | A0A0C4DGQ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGQ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 6 | 391 | Targetable-Peptide | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 235 | 9 | 1 | EML2 | K7EIK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EIK7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius};WD-repeat-{ECO:0000256|SAAS:SAAS00561839}. | Membrane-Bound | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 6 | 391 | Targetable-Peptide | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 393 | 9 | 1 | EML2 | C9JRL6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JRL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 6 | 391 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 213 | 9 | 1 | EML2 | K7EKU5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7EKU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 6 | 391 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1327 | mutation | K.SHIYFWTLD:GGSLSK.R | E | D | 235 | 9 | 1 | EML2 | O95834 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Microtubule;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr19 | 46129977-46129998;M1;46129999-46130028 | 1 | 0 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs1545040). | 6 | 6 | 391 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.584963 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 11 | 7 | 1 | EML2 | K7ERR2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7ERR2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 11 | 7 | 1 | EML2 | K7EQR0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7EQR0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 33 | 7 | 1 | EML2 | A0A0C4DGQ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGQ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Intra-Cellular-Peptide | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 11 | 7 | 1 | EML2 | K7EIM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7EIM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 33 | 7 | 1 | EML2 | K7EIK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EIK7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius};WD-repeat-{ECO:0000256|SAAS:SAAS00561839}. | Membrane-Bound | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Intra-Cellular-Peptide | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 191 | 7 | 1 | EML2 | C9JRL6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JRL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 11 | 7 | 1 | EML2 | K7EKU5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7EKU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 11 | 7 | 1 | EML2 | K7ERY9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7ERY9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1329 | mutation | R.GRPVPMV:IPDELAPTYSLDTR.S | M | V | 33 | 7 | 1 | EML2 | O95834 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Microtubule;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr19 | 46141797-46141844;M1;46141845-46141866 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs12151009). | 9 | 13 | 528 | Unknown | 1.89604407992 |
3636.70653051,5807.84483542 |
1.723308 |
| 1330 | mutation | K.SELPLDPLPL:PTEEGNPLLK.H | V | L | 336 | 10 | 1 | SLC1A5 | M0QXM4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QXM4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361216}; | Membrane-Bound | Atlas | chr19 | 47278823-47278858;M1;47278859-47278889 | 2 | 2 | 76 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 76 | 29 | 6562 | Targetable-Peptide | 1.10079666768 |
4497.54551172,5807.84483542 |
0.000000 |
| 1330 | mutation | K.SELPLDPLPL:PTEEGNPLLK.H | V | L | 512 | 10 | 1 | SLC1A5 | Q15758 | Acetylation;-Alternative-initiation;-Alternative-splicing;Cell-membrane;-Complete-proteome;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Membrane;-Phosphoprotein;Polymorphism;-Receptor;-Reference-proteome;-Symport;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr19 | 47278823-47278858;M1;47278859-47278889 | 2 | 2 | 76 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs3027961). | 76 | 29 | 6562 | Intra-Cellular-Peptide | 1.10079666768 |
4497.54551172,5807.84483542 |
0.000000 |
| 1331 | mutation | K.GLAAAEA:TANGGLALASIEDQGAAAGGYCGSR.D | P | A | 17 | 7 | 1 | SLC1A5 | Q15758 | Acetylation;-Alternative-initiation;-Alternative-splicing;Cell-membrane;-Complete-proteome;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Membrane;-Phosphoprotein;Polymorphism;-Receptor;-Reference-proteome;-Symport;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr19 | 47291093-47291173;M1;47291174-47291195 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs3027956). | 6 | 18 | 2848 | Intra-Cellular-Peptide | 1.10079666768 |
4497.54551172,5807.84483542 |
0.000000 |
| 1332 | mutation | R.:QEPFLLSGGDDGALK.I | R | Q | 319 | 1 | 1 | GRWD1 | Q9BQ67 | Complete-proteome;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-WD-repeat. | Intracellular | Atlas | chr19 | 48954416-48954420;M1;48954421-48954467 | 2 | 3 | 5 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs2302951). | 1 | 13 | 1313 | Unknown | 2.14797870478 |
3296.50079426,5807.84483542 |
3.549918 |
| 1333 | mutation | K.VTGDEWGDNYFLVGPYTEH:GVR.T | Q | H | 71 | 19 | 1 | GYS1 | P13807 | Allosteric-enzyme;-Alternative-splicing;-Complete-proteome;Diabetes-mellitus;-Disease-mutation;-Glycogen-biosynthesis;Glycosyltransferase;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr19 | 49494633-49494645;M1;49494646-49494705 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 3 | 1 | 127 | Unknown | 1.96576302913 |
3478.17209571,5807.84483542 |
3.807355 |
| 1334 | mutation | K.YQAVT:DTLEEK.R | A | D | 154 | 6 | 1 | RPL13A | P40429 | 3D-structure;-Acetylation;-Citrullination;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Phosphoprotein;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein; | Intracellular | Atlas | chr19 | 49994720-49994739;M1;49994740-49994759 | 2 | 2 | 10 | 1 | 0 | -1 | -1 | 115 | 150 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 249 | Unknown | 4.93857281066 |
919.106126399,5807.84483542 |
0.000000 |
| 1334 | mutation | K.YQAVT:DTLEEK.R | A | D | 161 | 6 | 1 | RPL13A | M0QYS1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QYS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 49994720-49994739;M1;49994740-49994759 | 2 | 2 | 10 | 1 | 0 | -1 | -1 | 115 | 150 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 249 | Unknown | 4.93857281066 |
919.106126399,5807.84483542 |
0.000000 |
| 1335 | mutation | K.DGHLDGSEVGHWVLPPAQDQPLVEA:K.H | N | K | 283 | 26 | 1 | RCN3 | Q96D15 | Calcium;-Complete-proteome;-Endoplasmic-reticulum;-Glycoprotein;Metal-binding;-Polymorphism;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr19 | 50045898-50045978;M1;50045979-50045982 | 1 | 0 | 4 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 6 | 5 | 1041 | Unknown | 3.40126411907 |
1905.53866554,5807.84483542 |
1.000000 |
| 1336 | mutation | K.DIIEHV:NTSGAPADTSDPLQQICK.I | L | V | 382 | 6 | 2 | NUP62 | M0QXN5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:M0QXN5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr19 | 50411633-50411692;M1;50411693-50411711 | 1 | 7 | 2 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 181 | Unknown | - |
- |
0.000000 |
| 1336 | mutation | K.DIIEHV:NTSGAPADTSDPLQQICK.I | L | V | 458 | 6 | 2 | NUP62 | P37198 | 3D-structure;-Acetylation;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Disease-mutation;-Disulfide-bond;-Glycoprotein;Host-virus-interaction;-mRNA-transport;-Nuclear-pore-complex;-Nucleus;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Repeat;-Translocation;-Transport. | Intracellular | Atlas | chr19 | 50411633-50411692;M1;50411693-50411711 | 1 | 7 | 2 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 181 | Unknown | - |
- |
0.000000 |
| 1337 | mutation | R.VGDDHLLLLQGEQLC:R.T | R | C | 110 | 15 | 1 | KLK10 | O43240 | Cell-cycle;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Hydrolase;-Polymorphism;-Protease;-Reference-proteome;-Secreted;Serine-protease;-Signal;-Tumor-suppressor. | Intracellular | Atlas | chr19 | 51519345-51519353;M1;51519354-51519399 | 1 | 4 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 1 | 250 | Unknown | 0.583667210335 |
4801.02326076,5807.84483542 |
0.000000 |
| 1337 | mutation | R.VGDDHLLLLQGEQLC:R.T | R | C | 110 | 15 | 1 | KLK10 | M0R132 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:M0R132};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 51519345-51519353;M1;51519354-51519399 | 1 | 4 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 1 | 250 | Unknown | 0.583667210335 |
4801.02326076,5807.84483542 |
0.000000 |
| 1338 | mutation | R.LDPEAYGA:PCAR.G | S | A | 50 | 8 | 1 | KLK10 | O43240 | Cell-cycle;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Hydrolase;-Polymorphism;-Protease;-Reference-proteome;-Secreted;Serine-protease;-Signal;-Tumor-suppressor. | Intracellular | Atlas | chr19 | 51520469-51520486;M1;51520487-51520511 | 2 | 0 | 16 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs3745535). | 12 | 60 | 13211 | Unknown | 0.583667210335 |
4801.02326076,5807.84483542 |
0.000000 |
| 1338 | mutation | R.LDPEAYGA:PCAR.G | S | A | 50 | 8 | 1 | KLK10 | M0R132 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:M0R132};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr19 | 51520469-51520486;M1;51520487-51520511 | 2 | 0 | 16 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 12 | 60 | 13211 | Unknown | 0.583667210335 |
4801.02326076,5807.84483542 |
0.000000 |
| 1339 | mutation | K.GFSS:GTVDALGVLTGAQLFSLQ:R.E | K | R | 355 | 23 | 1 | EPS8L1 | K7ELW3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:K7ELW3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}. | Intracellular | Atlas | chr19 | 55598239-55598256;55598670-55598723;M1;55598724-55598728 | 2 | 3 | 23 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 39 | 7486 | Unknown | - |
- |
2.310247 |
| 1339 | mutation | K.GFSS:GTVDALGVLTGAQLFSLQ:R.E | K | R | 605 | 23 | 1 | EPS8L1 | B4DKV7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B4DKV7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}; | Intracellular | Atlas | chr19 | 55598239-55598256;55598670-55598723;M1;55598724-55598728 | 2 | 3 | 23 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 39 | 7486 | Unknown | - |
- |
2.310247 |
| 1339 | mutation | K.GFSS:GTVDALGVLTGAQLFSLQ:R.E | K | R | 669 | 23 | 1 | EPS8L1 | Q8TE68 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr19 | 55598239-55598256;55598670-55598723;M1;55598724-55598728 | 2 | 3 | 23 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs1054940). | 1 | 39 | 7486 | Unknown | - |
- |
2.310247 |
| 1340 | mutation | R.VSHGEGGGEEAAA:AAR.E | T | A | 391 | 13 | 1 | FIZ1 | Q96SL8 | Acetylation;-Complete-proteome;-Cytoplasm;-Metal-binding;-Nucleus;Polymorphism;-Reference-proteome;-Repeat;-Repressor;-Transcription;Transcription-regulation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr19 | 56104121-56104135;M1;56104136-56104175 | 2 | 0 | 14 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs7247236). | 3 | 65 | 3962 | Unknown | -1.38129964191 |
7182.16410588,5807.84483542 |
2.437224 |
| 1341 | mutation | R.FASWALESDN:TTALLLSK.K | N | T | 358 | 11 | 1 | TRIM28 | Q13263 | 3D-structure;-Acetylation;-Alternative-splicing;-Chromatin-regulator;Citrullination;-Coiled-coil;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Ligase;-Metal-binding;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Repressor;-Transcription;-Transcription-regulation;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr19 | 59059484-59059518;M1;59059519-59059544 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 160 | 140 | -20 | -0.700000 | -0.400000 | - | 9 | 1 | 250 | Unknown | 4.7727470602 |
1000.69219325,5807.84483542 |
0.000000 |
| 1343 | mutation | R.LSVTWPEGDELLPNE:IRPAGTPI:GALR.I | V | I | 179 | 16 | 1 | SMCHD1 | J3KTL8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KTL8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 2707570-2707618;M1;2707619-2707643;2707804-2707818 | 1 | 2 | 17 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 44 | 61 | 765 | Unknown | 1.87186784711 |
3643.25746534,5807.84483542 |
0.000000 |
| 1343 | mutation | R.LSVTWPEGDELLPNE:IRPAGTPI:GALR.I | V | I | 30 | 16 | 1 | SMCHD1 | J3QSH1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSH1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 2707570-2707618;M1;2707619-2707643;2707804-2707818 | 1 | 2 | 17 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 44 | 61 | 765 | Unknown | 1.87186784711 |
3643.25746534,5807.84483542 |
0.000000 |
| 1343 | mutation | R.LSVTWPEGDELLPNE:IRPAGTPI:GALR.I | V | I | 708 | 16 | 1 | SMCHD1 | A6NHR9 | Acetylation;-Alternative-splicing;-Chromosome;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr18 | 2707570-2707618;M1;2707619-2707643;2707804-2707818 | 1 | 2 | 17 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2276092). | 44 | 61 | 765 | Unknown | 1.87186784711 |
3643.25746534,5807.84483542 |
0.000000 |
| 1344 | mutation | -.TESSGIETES:TVHHLPLSTEK.V | P | S | 508 | 9 | 1 | EPB41L3 | A8K968 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8K968,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 5397344-5397382;M1;5397383-5397410 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 7 | 94 | Unknown | 1.24408437443 |
4390.47500229,5807.84483542 |
1.584963 |
| 1344 | mutation | -.TESSGIETES:TVHHLPLSTEK.V | P | S | 839 | 9 | 1 | EPB41L3 | Q9Y2J2 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Apoptosis;-Cell-junction;-Cell-membrane;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Tumor-suppressor. | Intracellular | Atlas | chr18 | 5397344-5397382;M1;5397383-5397410 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 7 | 94 | Unknown | 1.24408437443 |
4390.47500229,5807.84483542 |
1.584963 |
| 1344 | mutation | -.TESSGIETES:TVHHLPLSTEK.V | P | S | 173 | 9 | 1 | EPB41L3 | A0A0J9YY18 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YY18,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 5397344-5397382;M1;5397383-5397410 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 7 | 94 | Unknown | 1.24408437443 |
4390.47500229,5807.84483542 |
1.584963 |
| 1344 | mutation | -.TESSGIETES:TVHHLPLSTEK.V | P | S | 670 | 9 | 1 | EPB41L3 | A0A0A0MRA8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 5397344-5397382;M1;5397383-5397410 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 7 | 94 | Unknown | 1.24408437443 |
4390.47500229,5807.84483542 |
1.584963 |
| 1344 | mutation | -.TESSGIETES:TVHHLPLSTEK.V | P | S | 109 | 9 | 1 | EPB41L3 | A0A0J9YW31 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YW31,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 5397344-5397382;M1;5397383-5397410 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 7 | 94 | Unknown | 1.24408437443 |
4390.47500229,5807.84483542 |
1.584963 |
| 1345 | mutation | K.VKDVET:QANLLFDR.L | I | T | 2076 | 6 | 1 | LAMA1 | P25391 | Basement-membrane;-Cell-adhesion;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr18 | 6977815-6977843;M1;6977844-6977863 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs671871). | 3 | 13 | 245 | Unknown | -1.85379738783 |
6958.09194696,5807.84483542 |
0.000000 |
| 1347 | mutation | R.NLQVTLEDGYIELSTSDSG:GPIFK.S | S | G | 2834 | 20 | 1 | LAMA3 | Q16787 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Epidermolysis-bullosa;Extracellular-matrix;-Glycoprotein;-Laminin-EGF-like-domain;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr18 | 21511028-21511088;M1;21511089-21511106 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs1154233). | 1 | 65 | 5675 | Unknown | 0.299593123829 |
5476.80771588,5807.84483542 |
3.843906 |
| 1348 | mutation | K.TEEEDVECEDDLILACQPESS:VK.A | L | V | 151 | 22 | 1 | IMPACT | J3QRS6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QRS6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 22020476-22020542;M1;22020543-22020551 | 1 | 2 | 42 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 105 | 84 | 6530 | Unknown | 1.36271455285 |
4105.22330241,5807.84483542 |
2.783437 |
| 1348 | mutation | K.TEEEDVECEDDLILACQPESS:VK.A | L | V | 151 | 22 | 1 | IMPACT | Q9P2X3 | Actin-binding;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Differentiation;-Neurogenesis;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repressor;-Stress-response; | Intracellular | Atlas | chr18 | 22020476-22020542;M1;22020543-22020551 | 1 | 2 | 42 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs677688). | 105 | 84 | 6530 | Unknown | 1.36271455285 |
4105.22330241,5807.84483542 |
2.783437 |
| 1348 | mutation | K.TEEEDVECEDDLILACQPESS:VK.A | L | V | 133 | 22 | 1 | IMPACT | J3KT25 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KT25,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 22020476-22020542;M1;22020543-22020551 | 1 | 2 | 42 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 105 | 84 | 6530 | Unknown | 1.36271455285 |
4105.22330241,5807.84483542 |
2.783437 |
| 1349 | mutation | K.V:YSANGFTTQTVGASAQGVCGTVGSGV:K.N | I | V | 776 | 27 | 1 | DSC2 | Q02487 | 3D-structure;-Alternative-splicing;-Calcium;-Cardiomyopathy;Cell-adhesion;-Cell-junction;-Cell-membrane;Cleavage-on-pair-of-basic-residues;-Complete-proteome;Disease-mutation;-Glycoprotein;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr18 | 28649033-28649041;M1;28649042-28649117;28650691-28650697 | 1 | 7 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1893963). | 3 | 14 | 1829 | Intra-Cellular-Peptide | 2.4289755907 |
2946.74978492,5807.84483542 |
1.000000 |
| 1350 | mutation | R.GNNVEKPLEL:LIK.V | R | L | 146 | 11 | 1 | DSG2 | J3KSI6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KSI6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00544605}. | Intracellular | Atlas | chr18 | 29101085-29101119;M1;29101120-29101130 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 21 | Unknown | 3.68899426 |
1710.34468881,5807.84483542 |
0 |
| 1350 | mutation | R.GNNVEKPLEL:LIK.V | R | L | 146 | 11 | 1 | DSG2 | Q14126 | 3D-structure;-Calcium;-Cardiomyopathy;-Cell-adhesion;-Cell-junction;Cell-membrane;-Cleavage-on-pair-of-basic-residues;-Complete-proteome;Disease-mutation;-Glycoprotein;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr18 | 29101085-29101119;M1;29101120-29101130 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 21 | Targetable | 3.68899426 |
1710.34468881,5807.84483542 |
0 |
| 1351 | mutation | E.P:GFTQDVFVGSVEELSAA:HTLVMK.I | V | G | 158 | 2 | 1 | DSG2 | J3KSI6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KSI6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00544605}. | Intracellular | Atlas | chr18 | 29101148-29101155;M1;29101156-29101206;29102045-29102065 | 1 | 4 | 4 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | - | 10 | 34 | 367 | Unknown | 3.68899426 |
1710.34468881,5807.84483542 |
0.000000 |
| 1351 | mutation | E.P:GFTQDVFVGSVEELSAA:HTLVMK.I | V | G | 158 | 2 | 1 | DSG2 | Q14126 | 3D-structure;-Calcium;-Cardiomyopathy;-Cell-adhesion;-Cell-junction;Cell-membrane;-Cleavage-on-pair-of-basic-residues;-Complete-proteome;Disease-mutation;-Glycoprotein;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr18 | 29101148-29101155;M1;29101156-29101206;29102045-29102065 | 1 | 4 | 4 | 1 | 0 | 0 | 0 | 155 | 75 | -80 | -0.400000 | 0.000000 | V->G(indbSNP:rs191143292). | 10 | 34 | 367 | Targetable | 3.68899426 |
1710.34468881,5807.84483542 |
0.000000 |
| 1352 | mutation | R.DMAGAQAAAVALNEEFL:K.N | R | K | 773 | 18 | 1 | DSG2 | Q14126 | 3D-structure;-Calcium;-Cardiomyopathy;-Cell-adhesion;-Cell-junction;Cell-membrane;-Cleavage-on-pair-of-basic-residues;-Complete-proteome;Disease-mutation;-Glycoprotein;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr18 | 29122743-29122798;M1;29122799-29122803 | 1 | 4 | 48 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | R->K(indbSNP:rs2278792). | 75 | 38 | 6767 | Intra-Cellular-Peptide | 3.68899426 |
1710.34468881,5807.84483542 |
0.000000 |
| 1353 | mutation | K.QELPSALESHEVPGTLS:MGVPQIFK.Y | N | S | 220 | 17 | 1 | ZNF24 | P17028 | 3D-structure;-Alternative-splicing;-Complete-proteome;-DNA-binding;Isopeptide-bond;-Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr18 | 32917615-32917643;M1;32917644-32917696 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs2032729). | 6 | 66 | 3743 | Unknown | 0.107207529981 |
5705.36211745,5807.84483542 |
2.093772 |
| 1354 | mutation | -.TSDPALC:PLIVSAAADSAVR.L | T | P | 128 | 7 | 1 | ELP2 | Q6IA86 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Nucleus;Polymorphism;-Reference-proteome;-Repeat;-Transcription;Transcription-regulation;-WD-repeat. | Intracellular | Atlas | chr18 | 33718304-33718325;M1;33718326-33718367 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | T->P(indbSNP:rs1785934). | 1 | 40 | 4284 | Unknown | 0.383833729871 |
5333.0030145,5807.84483542 |
2.673481 |
| 1355 | mutation | R.INPYMSSPCHIEI:ILTEK.E | M | I | 148 | 13 | 1 | RPL17 | P18621 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Reference-proteome;-Ribonucleoprotein; | Intracellular | Atlas | chr18 | 47015773-47015791;M1;47015792-47015833 | 1 | 6 | 8 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 20 | 1 | 250 | Unknown | 5.67941874392 |
692.526801439,5807.84483542 |
0.000000 |
| 1355 | mutation | R.INPYMSSPCHIEI:ILTEK.E | M | I | 138 | 13 | 1 | RPL17 | J3QLC8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QLC8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU004005}. | Intracellular | Atlas | chr18 | 47015773-47015791;M1;47015792-47015833 | 1 | 6 | 8 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 20 | 1 | 250 | Unknown | 5.67941874392 |
692.526801439,5807.84483542 |
0.000000 |
| 1355 | mutation | R.INPYMSSPCHIEI:ILTEK.E | M | I | 148 | 13 | 1 | RPL17 | J3QQT2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU004005}. | Intracellular | Atlas | chr18 | 47015773-47015791;M1;47015792-47015833 | 1 | 6 | 8 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 20 | 1 | 250 | Unknown | 5.67941874392 |
692.526801439,5807.84483542 |
0.000000 |
| 1355 | mutation | R.INPYMSSPCHIEI:ILTEK.E | M | I | 148 | 13 | 1 | RPL17 | A0A087WXM6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU004005}. | Intracellular | Atlas | chr18 | 47015773-47015791;M1;47015792-47015833 | 1 | 6 | 8 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 20 | 1 | 250 | Unknown | 5.67941874392 |
692.526801439,5807.84483542 |
0.000000 |
| 1355 | mutation | R.INPYMSSPCHIEI:ILTEK.E | M | I | 148 | 13 | 1 | RPL17 | J3KRX5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosomal-protein-{ECO:0000256|RuleBase:RU004005}. | Intracellular | Atlas | chr18 | 47015773-47015791;M1;47015792-47015833 | 1 | 6 | 8 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 20 | 1 | 250 | Unknown | 5.67941874392 |
692.526801439,5807.84483542 |
0.000000 |
| 1356 | mutation | R.AMAS:INERPVIFALSNPTAQAEC:MAEEAYTLTE:GR.C | T | M | 429 | 24 | 1 | ME2 | P23368 | 3D-structure;-Acetylation;-Allosteric-enzyme;-Alternative-splicing;Complete-proteome;-Direct-protein-sequencing;-Metal-binding;Mitochondrion;-NAD;-Oxidoreductase;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr18 | 48452166-48452183;M1;48452184-48452239;M1;48452240-48452268;48458627-48458636 | 1 | 3 | 7 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 2 | 949 | Unknown | 3.46587405066 |
1891.70533746,5807.84483542 |
0.000000 |
| 1357 | mutation | R.LFLDQ:DLMTLPIQN:K.L | R | Q | 96 | 5 | 1 | FECH | P22830 | 2Fe-2S;-3D-structure;-Acetylation;-Alternative-splicing;Complete-proteome;-Disease-mutation;-Heme-biosynthesis;-Iron;Iron-sulfur;-Lyase;-Membrane;-Metal-binding;-Mitochondrion;Mitochondrion-inner-membrane;-Polymorphism;-Porphyrin-biosynthesis;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr18 | 55238765-55238772;55240477-55240504;M1;55240505-55240521 | 1 | 2 | 9 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs1041951). | 24 | 19 | 2253 | Unknown | 2.56396516239 |
2757.70094377,5807.84483542 |
1.581378 |
| 1357 | mutation | R.LFLDQ:DLMTLPIQN:K.L | R | Q | 96 | 5 | 1 | FECH | K7ELX4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7ELX4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 55238765-55238772;55240477-55240504;M1;55240505-55240521 | 1 | 2 | 9 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 24 | 19 | 2253 | Unknown | 2.56396516239 |
2757.70094377,5807.84483542 |
1.581378 |
| 1357 | mutation | R.LFLDQ:DLMTLPIQN:K.L | R | Q | 96 | 5 | 1 | FECH | K7EKP7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EKP7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 55238765-55238772;55240477-55240504;M1;55240505-55240521 | 1 | 2 | 9 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 24 | 19 | 2253 | Unknown | 2.56396516239 |
2757.70094377,5807.84483542 |
1.581378 |
| 1357 | mutation | R.LFLDQ:DLMTLPIQN:K.L | R | Q | 24 | 5 | 1 | FECH | K7EPN2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7EPN2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 55238765-55238772;55240477-55240504;M1;55240505-55240521 | 1 | 2 | 9 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 24 | 19 | 2253 | Unknown | 2.56396516239 |
2757.70094377,5807.84483542 |
1.581378 |
| 1358 | mutation | K.EL::PTPDKEISEK.E | P | L | 274 | 2 | 1 | LMAN1 | P49257 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Lectin;-Membrane;-Metal-binding;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Signal;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr18 | 57013250-57013283;57014744-57014745;M1;57014746-57014753 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 250 | Lumenal | 4.33852216377 |
1220.74187826,5807.84483542 |
0 |
| 1359 | mutation | G.DGVGGDPAA:ALPHR.R | V | A | 39 | 9 | 1 | LMAN1 | P49257 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Lectin;-Membrane;-Metal-binding;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Signal;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr18 | 57026341-57026360;M1;57026361-57026389 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs33926449). | 9 | 17 | 2567 | Lumenal | 4.33852216377 |
1220.74187826,5807.84483542 |
0.000000 |
| 1360 | mutation | K.GVALSNV:VHK.V | I | V | 319 | 8 | 1 | SERPINB5 | P36952 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Glycoprotein;-Polymorphism;Reference-proteome;-Secreted. | Intracellular | Atlas | chr18 | 61170757-61170781;M1;61170782-61170793 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1455555). | 9 | 30 | 700 | Unknown | 1.40671398664 |
3639.03003865,5807.84483542 |
2.318398 |
| 1361 | mutation | K.DGDIH:QGFQSLLSEVNR.T | R | Q | 68 | 6 | 1 | SERPINB8 | C9JTJ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JTJ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 61647049-61647068;M1;61647069-61647106 | 1 | 0 | 16 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 37 | 37 | 1052 | Unknown | 1.6012629524 |
3838.14572242,5807.84483542 |
2.282469 |
| 1361 | mutation | K.DGDIH:QGFQSLLSEVNR.T | R | Q | 68 | 6 | 1 | SERPINB8 | C9JVA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JVA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 61647049-61647068;M1;61647069-61647106 | 1 | 0 | 16 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 37 | 37 | 1052 | Unknown | 1.6012629524 |
3838.14572242,5807.84483542 |
2.282469 |
| 1361 | mutation | K.DGDIH:QGFQSLLSEVNR.T | R | Q | 68 | 6 | 1 | SERPINB8 | P50452 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Serine-protease-inhibitor. | Intracellular | Atlas | chr18 | 61647049-61647068;M1;61647069-61647106 | 1 | 0 | 16 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs1944270). | 37 | 37 | 1052 | Unknown | 1.6012629524 |
3838.14572242,5807.84483542 |
2.282469 |
| 1361 | mutation | K.DGDIH:QGFQSLLSEVNR.T | R | Q | 10 | 6 | 1 | SERPINB8 | H7BXK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXK7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 61647049-61647068;M1;61647069-61647106 | 1 | 0 | 16 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 37 | 37 | 1052 | Unknown | 1.6012629524 |
3838.14572242,5807.84483542 |
2.282469 |
| 1362 | mutation | R.EGGSIPVTLTFQEA:MGK.N | T | M | 428 | 15 | 1 | CNDP2 | Q96KP4 | 3D-structure;-Acetylation;-Alternative-splicing;-Carboxypeptidase;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-Hydrolase;Manganese;-Metal-binding;-Metalloprotease;-Phosphoprotein;Polymorphism;-Protease;-Reference-proteome. | Intracellular | Atlas | chr18 | 72186209-72186255;M1;72186256-72186266 | 2 | 2 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 226 | Unknown | 5.41900717339 |
759.094778531,5807.84483542 |
0.000000 |
| 1363 | mutation | R.IGSVLAVFEAAASAQS:AGASQSR.V | S | A | 61 | 17 | 1 | CTDP1 | A0A0J9YWB6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YWB6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr18 | 77440076-77440127;M1;77440128-77440151 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 59 | 1369 | Unknown | -0.468494252156 |
6479.89300117,5807.84483542 |
2.533091 |
| 1363 | mutation | R.IGSVLAVFEAAASAQS:AGASQSR.V | S | A | 61 | 17 | 1 | CTDP1 | Q9Y5B0 | 3D-structure;-Acetylation;-Alternative-splicing;-Cataract;-Cell-cycle;Cell-division;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Hydrolase;Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;-Protein-phosphatase; | Intracellular | Atlas | chr18 | 77440076-77440127;M1;77440128-77440151 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 59 | 1369 | Unknown | -0.468494252156 |
6479.89300117,5807.84483542 |
2.533091 |
| 1364 | mutation | K.FPTVVAGFDL:VGHEDTGHSLR:.D | H | R | 335 | 21 | 1 | CECR1 | Q9NZK5 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Heparin-binding;Hydrolase;-Metal-binding;-Polymorphism;-Reference-proteome;-Secreted; | Intracellular | Atlas | chr22 | 17669301-17669305;M1;17669306-17669337;17670831-17670864 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(indbSNP:rs2231495). | 6 | 49 | 7573 | Unknown | -0.0784532855686 |
5949.29435479,5807.84483542 |
1.811967 |
| 1364 | mutation | K.FPTVVAGFDL:VGHEDTGHSLR:.D | H | R | 215 | 21 | 1 | CECR1 | A0A087X0I3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087X0I3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 17669301-17669305;M1;17669306-17669337;17670831-17670864 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 49 | 7573 | Unknown | -0.0784532855686 |
5949.29435479,5807.84483542 |
1.811967 |
| 1364 | mutation | K.FPTVVAGFDL:VGHEDTGHSLR:.D | H | R | 293 | 21 | 1 | CECR1 | B4E3Q4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:B4E3Q4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 17669301-17669305;M1;17669306-17669337;17670831-17670864 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 49 | 7573 | Unknown | -0.0784532855686 |
5949.29435479,5807.84483542 |
1.811967 |
| 1365 | mutation | R.E:SDTEVITVEK.S | P | S | 336 | 2 | 1 | BCL2L13 | A0A087WTL4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTL4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr22 | 18209913-18209919;M1;18209920-18209952 | 2 | 5 | 15 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 11 | 886 | Targetable-Peptide | 2.29897410957 |
3103.79668328,5807.84483542 |
3.332356 |
| 1365 | mutation | R.E:SDTEVITVEK.S | P | S | 384 | 2 | 1 | BCL2L13 | A0A087WX97 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WX97,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr22 | 18209913-18209919;M1;18209920-18209952 | 2 | 5 | 15 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 11 | 886 | Targetable-Peptide | 2.29897410957 |
3103.79668328,5807.84483542 |
3.332356 |
| 1365 | mutation | R.E:SDTEVITVEK.S | P | S | 360 | 2 | 1 | BCL2L13 | Q9BXK5 | 3D-structure;-Alternative-splicing;-Apoptosis;-Complete-proteome;Membrane;-Mitochondrion;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr22 | 18209913-18209919;M1;18209920-18209952 | 2 | 5 | 15 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs9306198). | 6 | 11 | 886 | Targetable-Peptide | 2.29897410957 |
3103.79668328,5807.84483542 |
3.332356 |
| 1366 | mutation | R.IHFPLVTYAP:VISAEK.A | I | V | 33 | 11 | 2 | TUBA8 | V9GZ17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:V9GZ17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr22 | 18609534-18609567;M1;18609568-18609588 | 1 | 17 | 25 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 50 | 1 | 11 | Targetable-Peptide | -0.7681715991 |
6489.30808949,5807.84483542 |
0.000000 |
| 1366 | mutation | R.IHFPLVTYAP:VISAEK.A | I | V | 299 | 11 | 2 | TUBA8 | C9J2C0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J2C0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 18609534-18609567;M1;18609568-18609588 | 1 | 17 | 25 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 50 | 1 | 11 | Unknown | -0.7681715991 |
6489.30808949,5807.84483542 |
0.000000 |
| 1366 | mutation | R.IHFPLVTYAP:VISAEK.A | I | V | 275 | 11 | 2 | TUBA8 | Q9NY65 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Cytoskeleton;GTP-binding;-Microtubule;-Nucleotide-binding;-Polymorphism; | Intracellular | Atlas | chr22 | 18609534-18609567;M1;18609568-18609588 | 1 | 17 | 25 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 50 | 1 | 11 | Unknown | -0.7681715991 |
6489.30808949,5807.84483542 |
0.000000 |
| 1367 | mutation | K.AFMTADLPD:ELIELLEK.I | N | D | 1002 | 9 | 1 | CLTCL1 | P53675 | Acetylation;-Alternative-splicing;-Coated-pit;-Complete-proteome;Cytoplasmic-vesicle;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr22 | 19203652-19203681;M1;19203682-19203709 | 1 | 0 | 11 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 8 | Unknown | - |
- |
0.000000 |
| 1367 | mutation | K.AFMTADLPD:ELIELLEK.I | N | D | 1002 | 9 | 1 | CLTCL1 | A0A087WX41 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WX41,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19203652-19203681;M1;19203682-19203709 | 1 | 0 | 11 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 1 | 8 | Unknown | - |
- |
0.000000 |
| 1368 | mutation | K.FQPQSA:DFLDITNPK.A | P | A | 130 | 6 | 1 | UFD1L | Q92890 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Ubl-conjugation-pathway. | Intracellular | Atlas | chr22 | 19455397-19455429;M1;19455430-19455448 | 2 | 1 | 9 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs17744624). | 3 | 4 | 997 | Unknown | 2.77418685192 |
2580.76119752,5807.84483542 |
0.000000 |
| 1368 | mutation | K.FQPQSA:DFLDITNPK.A | P | A | 119 | 6 | 1 | UFD1L | C9IZG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9IZG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19455397-19455429;M1;19455430-19455448 | 2 | 1 | 9 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 4 | 997 | Unknown | 2.77418685192 |
2580.76119752,5807.84483542 |
0.000000 |
| 1368 | mutation | K.FQPQSA:DFLDITNPK.A | P | A | 125 | 6 | 1 | UFD1L | C9J6N9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J6N9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19455397-19455429;M1;19455430-19455448 | 2 | 1 | 9 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 4 | 997 | Unknown | 2.77418685192 |
2580.76119752,5807.84483542 |
0.000000 |
| 1368 | mutation | K.FQPQSA:DFLDITNPK.A | P | A | 34 | 6 | 1 | UFD1L | C9JNP9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JNP9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19455397-19455429;M1;19455430-19455448 | 2 | 1 | 9 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 4 | 997 | Unknown | 2.77418685192 |
2580.76119752,5807.84483542 |
0.000000 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 299 | 14 | 1 | TXNRD2 | E7EWK1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWK1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 203 | 14 | 1 | TXNRD2 | A0A096LNN4 | - | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 276 | 14 | 1 | TXNRD2 | D3YTF8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D3YTF8,Redox-active-center-{ECO:0000256|RuleBase:RU003691};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 298 | 14 | 1 | TXNRD2 | D3YTF9 | - | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 299 | 14 | 1 | TXNRD2 | Q9NNW7 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Disulfide-bond;FAD;-Flavoprotein;-Mitochondrion;-NADP;-Oxidoreductase;-Polymorphism;Redox-active-center;-Reference-proteome;-Selenocysteine; | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | S->R(indbSNP:rs5992495). | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 132 | 14 | 1 | TXNRD2 | A0A096LNY7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LNY7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 269 | 14 | 1 | TXNRD2 | E7ENA2 | - | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 42 | 14 | 1 | TXNRD2 | A0A0U1RQX0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQX0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 280 | 14 | 1 | TXNRD2 | A0A096LPK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LPK7,Redox-active-center-{ECO:0000256|RuleBase:RU003691};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1369 | mutation | R.RLPDGQLQVTWEDR:.T | S | R | 267 | 14 | 1 | TXNRD2 | A0A096LPD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LPD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19882978-19882983;M1;19882984-19883026 | 2 | 0 | 32 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 21 | 1912 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
1.646241 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 66 | 3 | 1 | TXNRD2 | E7EWK1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWK1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 43 | 3 | 1 | TXNRD2 | D3YTF8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D3YTF8,Redox-active-center-{ECO:0000256|RuleBase:RU003691};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 65 | 3 | 1 | TXNRD2 | D3YTF9 | - | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 66 | 3 | 1 | TXNRD2 | Q9NNW7 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Disulfide-bond;FAD;-Flavoprotein;-Mitochondrion;-NADP;-Oxidoreductase;-Polymorphism;Redox-active-center;-Reference-proteome;-Selenocysteine; | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | A->S(indbSNP:rs5748469). | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 36 | 3 | 1 | TXNRD2 | E7ENA2 | - | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1370 | mutation | R.KVS:VVDYVEPSPQG:TR.W | A | S | 34 | 3 | 1 | TXNRD2 | A0A096LPD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LPD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19906516-19906527;19907065-19907098;M1;19907099-19907108 | 2 | 2 | 26 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 35 | 1708 | Unknown | 2.42187094675 |
2985.80177753,5807.84483542 |
2.188722 |
| 1371 | mutation | R.AGPLGL:GPGDGCFTLPGHR.E | P | L | 220 | 6 | 1 | ARVCF | E9PDC3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDC3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19968927-19968970;M1;19968971-19968990 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 32 | 923 | Unknown | -0.305174082701 |
6158.91953645,5807.84483542 |
1.853897 |
| 1371 | mutation | R.AGPLGL:GPGDGCFTLPGHR.E | P | L | 220 | 6 | 1 | ARVCF | O00192 | Alternative-splicing;-Cell-adhesion;-Coiled-coil;-Complete-proteome;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr22 | 19968927-19968970;M1;19968971-19968990 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs2073748). | 3 | 32 | 923 | Unknown | -0.305174082701 |
6158.91953645,5807.84483542 |
1.853897 |
| 1371 | mutation | R.AGPLGL:GPGDGCFTLPGHR.E | P | L | 157 | 6 | 1 | ARVCF | C9JJX6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JJX6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 19968927-19968970;M1;19968971-19968990 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 32 | 923 | Unknown | -0.305174082701 |
6158.91953645,5807.84483542 |
1.853897 |
| 1372 | mutation | K.AATDLPG:PETPR.K | A | G | 837 | 7 | 1 | SCARF2 | A0A087WVE7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00580732};Proteomics-identification-{ECO:0000213|EPD:A0A087WVE7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 20779748-20779767;M1;20779768-20779790 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 9 | 58 | 6623 | Unknown | -1.93791015945 |
8077.24151833,5807.84483542 |
2.236345 |
| 1372 | mutation | K.AATDLPG:PETPR.K | A | G | 838 | 7 | 1 | SCARF2 | A0A096LNX8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00580732};Proteomics-identification-{ECO:0000213|EPD:A0A096LNX8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 20779748-20779767;M1;20779768-20779790 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 9 | 58 | 6623 | Unknown | -1.93791015945 |
8077.24151833,5807.84483542 |
2.236345 |
| 1372 | mutation | K.AATDLPG:PETPR.K | A | G | 837 | 7 | 1 | SCARF2 | Q96GP6 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disease-mutation;-Disulfide-bond;-EGF-like-domain;-Glycoprotein;Membrane;-Phosphoprotein;-Polymorphism;-Receptor;-Reference-proteome;Repeat;-Signal;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr22 | 20779748-20779767;M1;20779768-20779790 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs874101). | 9 | 58 | 6623 | Intra-Cellular-Peptide | -1.93791015945 |
8077.24151833,5807.84483542 |
2.236345 |
| 1373 | mutation | K.TG:TELVTCGSVLK.L | A | T | 33 | 3 | 1 | SDF2L1 | Q9HCN8 | Complete-proteome;-Endoplasmic-reticulum;-Phosphoprotein;Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr22 | 21996712-21996721;M1;21996722-21996757 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 16 | 1 | 173 | Unknown | 2.48259785618 |
2824.78598034,5807.84483542 |
2.000000 |
| 1374 | mutation | V.GTAED:SRSHSAHFFEFLTK.E | N | S | 74 | 6 | 1 | DDTL | A6NHG4 | Complete-proteome;-Cytoplasm;-Lyase;-Reference-proteome. | Intracellular | Atlas | chr22 | 24309666-24309685;M1;24309686-24309729 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 215 | Unknown | - |
- |
0.000000 |
| 1375 | mutation | R.FKDSIQTLGHVDST:GQVHCVSPLLYESGR.I | S | T | 110 | 14 | 1 | SUSD2 | Q9UGT4 | Cell-membrane;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Membrane;-Polymorphism;-Receptor;-Reference-proteome;-Signal;-Sushi;Transmembrane;-Transmembrane-helix;-Tumor-suppressor. | Membrane-Bound | Atlas | chr22 | 24579233-24579235;24579462-24579502;M1;24579503-24579553 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs9680526). | 3 | 3 | 457 | Targetable | 1.80644696459 |
3551.08802622,5807.84483542 |
0.000000 |
| 1376 | mutation | K.DSIQTLGHVDS:TGQVHCVSPLLYESGR.I | S | T | 110 | 12 | 1 | SUSD2 | Q9UGT4 | Cell-membrane;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Membrane;-Polymorphism;-Receptor;-Reference-proteome;-Signal;-Sushi;Transmembrane;-Transmembrane-helix;-Tumor-suppressor. | Membrane-Bound | Atlas | chr22 | 24579466-24579502;M1;24579503-24579553 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs9680526). | 6 | 3 | 457 | Targetable | 1.80644696459 |
3551.08802622,5807.84483542 |
0.000000 |
| 1377 | mutation | R.LPWV:QLFQPTIALLR.G | A | V | 160 | 4 | 1 | GGT5 | P36269 | Acyltransferase;-Alternative-splicing;-Complete-proteome;Glutathione-biosynthesis;-Glycoprotein;-Hydrolase;Leukotriene-biosynthesis;-Membrane;-Polymorphism;-Protease;Reference-proteome;-Signal-anchor;-Transferase;-Transmembrane;Transmembrane-helix;-Zymogen. | Membrane-Bound | Atlas | chr22 | 24628870-24628907;M1;24628908-24628921 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 5 | 111 | Targetable | 0.657423948864 |
4833.14221496,5807.84483542 |
1.584963 |
| 1378 | mutation | R.LSSLSSQTEPTSAGDQYDCS:K.D | R | K | 1592 | 21 | 1 | KIAA1671 | Q9BY89 | Alternative-splicing;-Complete-proteome;-Phosphoprotein; | Intracellular | Atlas | chr22 | 25570267-25570331;M1;25570332-25570336 | 1 | 0 | 2 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | - | 6 | 5 | 442 | Unknown | -1.40982344866 |
7193.77807857,5807.84483542 |
3.064642 |
| 1379 | mutation | K.GDA:AVSYEDPPTAK.A | T | A | 342 | 4 | 1 | EWSR1 | A0A0D9SFL3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0D9SFL3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 29692291-29692303;M1;29692304-29692339 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 203 | Unknown | 2.63466193735 |
2744.94483703,5807.84483542 |
0.000000 |
| 1379 | mutation | K.GDA:AVSYEDPPTAK.A | T | A | 376 | 4 | 1 | EWSR1 | B0QYK0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QYK0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 29692291-29692303;M1;29692304-29692339 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 203 | Unknown | 2.63466193735 |
2744.94483703,5807.84483542 |
0.000000 |
| 1379 | mutation | K.GDA:AVSYEDPPTAK.A | T | A | 378 | 4 | 1 | EWSR1 | C9JGE3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JGE3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 29692291-29692303;M1;29692304-29692339 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 203 | Unknown | 2.63466193735 |
2744.94483703,5807.84483542 |
0.000000 |
| 1379 | mutation | K.GDA:AVSYEDPPTAK.A | T | A | 70 | 4 | 1 | EWSR1 | H7BY36 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BY36,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 29692291-29692303;M1;29692304-29692339 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 203 | Unknown | 2.63466193735 |
2744.94483703,5807.84483542 |
0.000000 |
| 1379 | mutation | K.GDA:AVSYEDPPTAK.A | T | A | 414 | 4 | 1 | EWSR1 | Q01844 | 3D-structure;-Acetylation;-Alternative-splicing;-Calmodulin-binding;Cell-membrane;-Chromosomal-rearrangement;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Membrane;-Metal-binding;Methylation;-Nucleus;-Phosphoprotein;-Proto-oncogene;Reference-proteome;-Repeat;-Repressor;-RNA-binding;-Transcription;Transcription-regulation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr22 | 29692291-29692303;M1;29692304-29692339 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 203 | Unknown | 2.63466193735 |
2744.94483703,5807.84483542 |
0.000000 |
| 1381 | mutation | K.AGEGS:YALDSESCME:K.L | T | S | 125 | 5 | 1 | PES1 | B3KXD6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B3KXD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosome-biogenesis-{ECO:0000256|SAAS:SAAS00506553};rRNA-processing-{ECO:0000256|SAAS:SAAS00506560}. | Intracellular | Atlas | chr22 | 30977082-30977088;30977320-30977352;M1;30977353-30977368 | 1 | 4 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 3 | 331 | Unknown | 2.15571738414 |
3309.12632146,5807.84483542 |
0.000000 |
| 1381 | mutation | K.AGEGS:YALDSESCME:K.L | T | S | 264 | 5 | 1 | PES1 | O00541 | 3D-structure;-Acetylation;-Alternative-splicing;-Chromosome;Complete-proteome;-Isopeptide-bond;-Nucleus;-Polymorphism;Reference-proteome;-Ribosome-biogenesis;-rRNA-processing; | Intracellular | Atlas | chr22 | 30977082-30977088;30977320-30977352;M1;30977353-30977368 | 1 | 4 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs42942). | 15 | 3 | 331 | Unknown | 2.15571738414 |
3309.12632146,5807.84483542 |
0.000000 |
| 1381 | mutation | K.AGEGS:YALDSESCME:K.L | T | S | 247 | 5 | 1 | PES1 | B5MCF9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B5MCF9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Ribosome-biogenesis-{ECO:0000256|HAMAP-Rule:MF_03028,rRNA-processing-{ECO:0000256|HAMAP-Rule:MF_03028,Ubl-conjugation-{ECO:0000256|HAMAP-Rule:MF_03028}. | Intracellular | Atlas | chr22 | 30977082-30977088;30977320-30977352;M1;30977353-30977368 | 1 | 4 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 3 | 331 | Unknown | 2.15571738414 |
3309.12632146,5807.84483542 |
0.000000 |
| 1382 | mutation | K.VSGSSGELPLEDG:VSHK.S | G | V | 56 | 14 | 1 | HMGXB4 | B0QXZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QXZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 35660831-35660874;M1;35660875-35660888 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 75 | 155 | 80 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 46 | 2437 | Unknown | -0.39788352291 |
6340.66670241,5807.84483542 |
2.439530 |
| 1382 | mutation | K.VSGSSGELPLEDG:VSHK.S | G | V | 56 | 14 | 1 | HMGXB4 | B0QXZ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QXZ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 35660831-35660874;M1;35660875-35660888 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 75 | 155 | 80 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 46 | 2437 | Unknown | -0.39788352291 |
6340.66670241,5807.84483542 |
2.439530 |
| 1382 | mutation | K.VSGSSGELPLEDG:VSHK.S | G | V | 165 | 14 | 1 | HMGXB4 | Q9UGU5 | Complete-proteome;-DNA-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Wnt-signaling-pathway. | Intracellular | Atlas | chr22 | 35660831-35660874;M1;35660875-35660888 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 75 | 155 | 80 | Hydrophobic;4.200000 | -1.500000 | G->V(indbSNP:rs1053593). | 1 | 46 | 2437 | Unknown | -0.39788352291 |
6340.66670241,5807.84483542 |
2.439530 |
| 1383 | mutation | R.ANPQLGAYAPPPHV:IGR.I | I | V | 245 | 14 | 1 | APOL2 | Q9BQE5 | Acetylation;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Lipid-transport;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr22 | 36623716-36623730;M1;36623731-36623773 | 2 | 9 | 89 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs132760). | 69 | 67 | 9057 | Unknown | 2.22401219252 |
3166.22969657,5807.84483542 |
1.314980 |
| 1384 | mutation | R.AQAC:NLDQSGTNVAK.V | R | C | 182 | 4 | 1 | APOL2 | Q9BQE5 | Acetylation;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Lipid-transport;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr22 | 36623881-36623919;M1;36623920-36623932 | 2 | 8 | 7 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs7285167). | 3 | 8 | 1265 | Unknown | 2.22401219252 |
3166.22969657,5807.84483542 |
1.000000 |
| 1384 | mutation | R.AQAC:NLDQSGTNVAK.V | R | C | 294 | 4 | 1 | APOL2 | J3KQL8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KQL8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr22 | 36623881-36623919;M1;36623920-36623932 | 2 | 8 | 7 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 8 | 1265 | Targetable-Peptide | 2.22401219252 |
3166.22969657,5807.84483542 |
1.000000 |
| 1385 | mutation | K.DVLLQVDDEQ:R.N | R | Q | 1855 | 10 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36680469-36680476;M1;36680477-36680508 | 1 | 4 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 250 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0.000000 |
| 1386 | mutation | K.KLE:SMEAEMIQLQE:ELAAAER.A | K | E | 1676 | 3 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36681975-36681999;36682763-36682798;M1;36682799-36682808 | 1 | 3 | 3 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 1 | 250 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0.000000 |
| 1387 | mutation | K.DLEAHV:DSANK.N | I | V | 1626 | 6 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36684333-36684353;M1;36684354-36684372 | 4 | 3 | 174 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs2269529). | 124 | 30 | 7094 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0.000000 |
| 1388 | mutation | R.DLQGQ:DEQSEEK.K | R | Q | 1576 | 5 | 1 | MYH9 | P35579 | 3D-structure;-Acetylation;-Actin-binding;-Alport-syndrome;Alternative-splicing;-ATP-binding;-Calmodulin-binding;-Cataract;Cell-adhesion;-Cell-shape;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Motor-protein;-Myosin;-Non-syndromic-deafness;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr22 | 36684790-36684815;M1;36684816-36684832 | 1 | 3 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 1 | 249 | Unknown | 5.98520720874 |
625.569942756,5807.84483542 |
0.000000 |
| 1389 | mutation | R.D:LAMEATYINHNFSQQCLR.M | N | D | 311 | 1 | 1 | EIF3D | O15371 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Initiation-factor;-Phosphoprotein;-Polymorphism;-Protein-biosynthesis; | Intracellular | Atlas | chr22 | 36913347-36913406;M1;36913407-36913410 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 4 | 1000 | Unknown | 3.66244152131 |
1721.08141529,5807.84483542 |
0.000000 |
| 1390 | mutation | K.FTYDQDS:EPIQTFHFQ:APTMATYQVVELR.I | G | S | 671 | 7 | 2 | SUN2 | Q9UH99 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Endosome;-Glycoprotein;-Membrane;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr22 | 39132343-39132385;39134177-39134206;M1;39134207-39134228 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs2072797). | 3 | 9 | 1568 | Perinuclear space | 2.3585682397 |
3046.92369617,5807.84483542 |
2.403677 |
| 1391 | mutation | R.NIPPYFVALVPQE:DELDDQK.I | E | D | 418 | 14 | 1 | XRCC6 | P12956 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;ATP-binding;-Chromosome;-Complete-proteome;-Direct-protein-sequencing;DNA-damage;-DNA-recombination;-DNA-repair;-DNA-binding;-Helicase;Hydrolase;-Isopeptide-bond;-Lyase;-Multifunctional-enzyme;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Reference-proteome;Systemic-lupus-erythematosus;-Transcription;-Transcription-regulation; | Intracellular | Atlas | chr22 | 42049612-42049656;M1;42049657-42049678 | 1 | 3 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.73475592546 |
670.892993897,5807.84483542 |
0 |
| 1391 | mutation | R.NIPPYFVALVPQE:DELDDQK.I | E | D | 368 | 14 | 1 | XRCC6 | B1AHC9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1AHC9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 42049612-42049656;M1;42049657-42049678 | 1 | 3 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.73475592546 |
670.892993897,5807.84483542 |
0 |
| 1392 | mutation | Q.V:TSTASTFVKPIFSR.D | A | V | 9 | 1 | 1 | NDUFA6 | A0A0C4DGS0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Electron-transport-{ECO:0000256|PIRNR:PIRNR006643};Mitochondrion-inner-membrane-{ECO:0000256|PIRNR:PIRNR006643};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGS0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Respiratory-chain-{ECO:0000256|PIRNR:PIRNR006643}; | Intracellular | Atlas | chr22 | 42486676-42486722;M1;42486723-42486727 | 3 | 0 | 19 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 31 | 6773 | Unknown | 2.66072858691 |
2626.9916262,5807.84483542 |
0.000000 |
| 1392 | mutation | Q.V:TSTASTFVKPIFSR.D | A | V | 35 | 1 | 1 | NDUFA6 | P56556 | Complete-proteome;-Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Respiratory-chain;-Transport. | Intracellular | Atlas | chr22 | 42486676-42486722;M1;42486723-42486727 | 3 | 0 | 19 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs1801311). | 1 | 31 | 6773 | Unknown | 2.66072858691 |
2626.9916262,5807.84483542 |
0.000000 |
| 1393 | mutation | K.HLDLY:NVAG:YK.A | S | Y | 258 | 5 | 1 | PACSIN2 | A0A0U1RR22 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RR22,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 43278300-43278310;43280391-43280403;M1;43280404-43280420 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 115 | 230 | 115 | -1.300000 | -2.300000 | - | 3 | 2 | 307 | Unknown | 2.99848262774 |
2334.88827736,5807.84483542 |
0.000000 |
| 1393 | mutation | K.HLDLY:NVAG:YK.A | S | Y | 258 | 5 | 1 | PACSIN2 | Q9UNF0 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Cell-projection;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoplasmic-vesicle;-Cytoskeleton;-Endocytosis;-Endosome;Lipid-binding;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-SH3-domain. | Intracellular | Atlas | chr22 | 43278300-43278310;43280391-43280403;M1;43280404-43280420 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 115 | 230 | 115 | -1.300000 | -2.300000 | - | 3 | 2 | 307 | Unknown | 2.99848262774 |
2334.88827736,5807.84483542 |
0.000000 |
| 1395 | mutation | K.DGLEFMQHSET:LWK:.G | F | L | 194 | 12 | 1 | TTC38 | H7C2L7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C2L7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 46677570-46677606;M1;46677607-46677615;46677867-46677870 | 1 | 0 | 33 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | - | 80 | 83 | 4957 | Unknown | 1.27445279414 |
4334.36889709,5807.84483542 |
1.731084 |
| 1396 | mutation | R.FDA:IHEEFPR.E | T | A | 2268 | 3 | 1 | CELSR1 | Q9NYQ6 | Alternative-splicing;-Calcium;-Cell-membrane;-Complete-proteome;Developmental-protein;-Disease-mutation;-Disulfide-bond;EGF-like-domain;-G-protein-coupled-receptor;-Glycoprotein;Hydroxylation;-Laminin-EGF-like-domain;-Membrane;-Phosphoprotein;Polymorphism;-Receptor;-Reference-proteome;-Repeat;-Signal;Transducer;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr22 | 46780494-46780520;M1;46780521-46780530 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs6007897). | 11 | 17 | 1858 | Targetable | -1.79486269709 |
7627.85584578,5807.84483542 |
0.000000 |
| 1397 | mutation | R.SSGGPGAGLCLFPLDE:VHAK.M | K | E | 318 | 16 | 1 | PLXNB2 | O15031 | 3D-structure;-Cell-membrane;-Complete-proteome;-Developmental-protein;Disulfide-bond;-Glycoprotein;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr22 | 50728044-50728061;M1;50728062-50728110 | 2 | 11 | 35 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs28379706). | 27 | 35 | 7515 | Targetable | 1.97629344742 |
3577.93210209,5807.84483542 |
0.000000 |
| 1397 | mutation | R.SSGGPGAGLCLFPLDE:VHAK.M | K | E | 318 | 16 | 1 | PLXNB2 | E2PU09 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E2PU09,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr22 | 50728044-50728061;M1;50728062-50728110 | 2 | 11 | 35 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 27 | 35 | 7515 | Unknown | 1.97629344742 |
3577.93210209,5807.84483542 |
0.000000 |
| 1398 | mutation | K.ASSSILIN:ESEPTTNIQIR.L | D | N | 290 | 8 | 1 | NSFL1C | Q9UNZ2 | 3D-structure;-Alternative-splicing;-Chromosome;-Complete-proteome;Direct-protein-sequencing;-Golgi-apparatus;-Lipid-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr20 | 1426354-1426392;M1;1426393-1426417 | 2 | 0 | 95 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(indbSNP:rs9575). | 1 | 43 | 10183 | Unknown | 3.86186150072 |
1562.73315564,5807.84483542 |
0.000000 |
| 1399 | mutation | K.EEPVSSGPEEA:AGK.S | V | A | 576 | 12 | 1 | NOP56 | O00567 | Acetylation;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Isopeptide-bond;-Neurodegeneration;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ribonucleoprotein;Ribosome-biogenesis;-Spinocerebellar-ataxia;-Ubl-conjugation. | Intracellular | Atlas | chr20 | 2638844-2638881;M1;2638882-2638892 | 3 | 7 | 98 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs5856). | 122 | 44 | 10170 | Unknown | 4.63442407565 |
1056.66142645,5807.84483542 |
0.000000 |
| 1400 | mutation | R.LLTPGE:YMVTASAEGYHSVTR.N | D | E | 668 | 6 | 1 | CPXM1 | Q96SM3 | Carboxypeptidase;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Hydrolase;-Metal-binding;-Metalloprotease;-Protease;Reference-proteome;-Secreted;-Signal;-Zinc. | Intracellular | Atlas | chr20 | 2774988-2775036;M1;2775037-2775057 | 1 | 3 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 0.891625013251 |
4804.65975149,5807.84483542 |
0.000000 |
| 1401 | mutation | R.VSIAELAQASNSLIT:WGR.E | A | T | 303 | 15 | 1 | DDRGK1 | Q96HY6 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Signal;-Ubl-conjugation. | Intracellular | Atlas | chr20 | 3171322-3171336;M1;3171337-3171382 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs11591). | 18 | 25 | 5498 | Unknown | 2.44013263407 |
2839.29128606,5807.84483542 |
0.000000 |
| 1402 | mutation | R.LL:LEEEQK:EEEER.K | R | L | 164 | 2 | 1 | DDRGK1 | Q96HY6 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Isopeptide-bond;-Phosphoprotein;-Polymorphism;-Reference-proteome;Signal;-Ubl-conjugation. | Intracellular | Atlas | chr20 | 3175981-3175999;3180646-3180665;M1;3180666-3180673 | 2 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 500 | Unknown | 2.44013263407 |
2839.29128606,5807.84483542 |
0.000000 |
| 1402 | mutation | R.LL:LEEEQK:EEEER.K | R | L | 164 | 2 | 1 | DDRGK1 | A0A0A0MRX2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRX2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 3175981-3175999;3180646-3180665;M1;3180666-3180673 | 2 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 500 | Unknown | 2.44013263407 |
2839.29128606,5807.84483542 |
0.000000 |
| 1403 | mutation | R.GCELVDLADEVASVY:ESYQP:R.T | Q | E | 93 | 16 | 1 | MAVS | Q7Z434 | 3D-structure;-Alternative-splicing;-Antiviral-defense;Complete-proteome;-Host-virus-interaction;-Immunity;-Innate-immunity;Membrane;-Mitochondrion;-Mitochondrion-outer-membrane;-Peroxisome;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Ubl-conjugation. | Membrane-Bound | Atlas | chr20 | 3838392-3838440;M1;3838441-3838456;3841978-3841983 | 1 | 4 | 4 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | Q->E(indbSNP:rs17857295). | 1 | 28 | 4460 | Mitochondrial intermembrane | 2.50297019145 |
2882.41251644,5807.84483542 |
0.000000 |
| 1404 | mutation | K.DQVEEL:TYD:VAQYIK.F | V | L | 268 | 6 | 1 | RASSF2 | P50749 | Alternative-splicing;-Cell-cycle;-Centromere;-Chromosome;Complete-proteome;-Cytoplasm;-Kinetochore;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Tumor-suppressor. | Intracellular | Atlas | chr20 | 4766953-4766974;4768278-4768289;M1;4768290-4768308 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 145 | Unknown | 0.569333691487 |
5180.98546568,5807.84483542 |
0.000000 |
| 1406 | mutation | K.LH:SLTQAK:EESEK.Q | L | H | 1043 | 2 | 1 | RRBP1 | A0A0A0MRV0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr20 | 17602574-17602592;17605220-17605239;M1;17605240-17605247 | 2 | 5 | 9 | 1 | 0 | 0 | 0 | 170 | 195 | 25 | -3.200000 | -0.500000 | - | 19 | 67 | 15194 | Targetable-Peptide | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1406 | mutation | K.LH:SLTQAK:EESEK.Q | L | H | 567 | 2 | 1 | RRBP1 | A0A087WVV2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVV2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17602574-17602592;17605220-17605239;M1;17605240-17605247 | 2 | 5 | 9 | 1 | 0 | 0 | 0 | 170 | 195 | 25 | -3.200000 | -0.500000 | - | 19 | 67 | 15194 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1406 | mutation | K.LH:SLTQAK:EESEK.Q | L | H | 384 | 2 | 1 | RRBP1 | F8W7S5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W7S5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17602574-17602592;17605220-17605239;M1;17605240-17605247 | 2 | 5 | 9 | 1 | 0 | 0 | 0 | 170 | 195 | 25 | -3.200000 | -0.500000 | - | 19 | 67 | 15194 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1406 | mutation | K.LH:SLTQAK:EESEK.Q | L | H | 1043 | 2 | 1 | RRBP1 | Q9P2E9 | Acetylation;-Alternative-splicing;-Complete-proteome;Endoplasmic-reticulum;-Isopeptide-bond;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat;Translocation;-Transmembrane;-Transmembrane-helix;-Transport; | Membrane-Bound | Atlas | chr20 | 17602574-17602592;17605220-17605239;M1;17605240-17605247 | 2 | 5 | 9 | 1 | 0 | 0 | 0 | 170 | 195 | 25 | -3.200000 | -0.500000 | - | 19 | 67 | 15194 | Lumenal | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1407 | mutation | R.ELCHTQSSHASLQ:ADAEK.A | R | Q | 902 | 13 | 1 | RRBP1 | A0A0A0MRV0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr20 | 17610492-17610511;M1;17610512-17610552 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Targetable-Peptide | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1407 | mutation | R.ELCHTQSSHASLQ:ADAEK.A | R | Q | 426 | 13 | 1 | RRBP1 | A0A087WVV2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVV2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17610492-17610511;M1;17610512-17610552 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1407 | mutation | R.ELCHTQSSHASLQ:ADAEK.A | R | Q | 243 | 13 | 1 | RRBP1 | F8W7S5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W7S5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17610492-17610511;M1;17610512-17610552 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1407 | mutation | R.ELCHTQSSHASLQ:ADAEK.A | R | Q | 902 | 13 | 1 | RRBP1 | Q9P2E9 | Acetylation;-Alternative-splicing;-Complete-proteome;Endoplasmic-reticulum;-Isopeptide-bond;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat;Translocation;-Transmembrane;-Transmembrane-helix;-Transport; | Membrane-Bound | Atlas | chr20 | 17610492-17610511;M1;17610512-17610552 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Lumenal | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1408 | mutation | K.LLAA:EQEDAAVAK.S | T | A | 711 | 4 | 1 | RRBP1 | A0A0A0MRV0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr20 | 17622462-17622494;M1;17622495-17622507 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Targetable-Peptide | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1408 | mutation | K.LLAA:EQEDAAVAK.S | T | A | 235 | 4 | 1 | RRBP1 | A0A087WVV2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVV2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17622462-17622494;M1;17622495-17622507 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1408 | mutation | K.LLAA:EQEDAAVAK.S | T | A | 52 | 4 | 1 | RRBP1 | F8W7S5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W7S5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17622462-17622494;M1;17622495-17622507 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1408 | mutation | K.LLAA:EQEDAAVAK.S | T | A | 711 | 4 | 1 | RRBP1 | Q9P2E9 | Acetylation;-Alternative-splicing;-Complete-proteome;Endoplasmic-reticulum;-Isopeptide-bond;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat;Translocation;-Transmembrane;-Transmembrane-helix;-Transport; | Membrane-Bound | Atlas | chr20 | 17622462-17622494;M1;17622495-17622507 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Lumenal | 4.35329458115 |
1219.19436177,5807.84483542 |
0 |
| 1409 | mutation | R.NTV:VAQSPEAPK.Q | D | V | 611 | 3 | 1 | RRBP1 | A0A0A0MRV0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr20 | 17639289-17639320;M1;17639321-17639331 | 1 | 11 | 1 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 73 | Targetable-Peptide | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1409 | mutation | R.NTV:VAQSPEAPK.Q | D | V | 135 | 3 | 1 | RRBP1 | A0A087WVV2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVV2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17639289-17639320;M1;17639321-17639331 | 1 | 11 | 1 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 73 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1409 | mutation | R.NTV:VAQSPEAPK.Q | D | V | 86 | 3 | 1 | RRBP1 | V9GY78 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:V9GY78,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 17639289-17639320;M1;17639321-17639331 | 1 | 11 | 1 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 73 | Unknown | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1409 | mutation | R.NTV:VAQSPEAPK.Q | D | V | 611 | 3 | 1 | RRBP1 | Q9P2E9 | Acetylation;-Alternative-splicing;-Complete-proteome;Endoplasmic-reticulum;-Isopeptide-bond;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat;Translocation;-Transmembrane;-Transmembrane-helix;-Transport; | Membrane-Bound | Atlas | chr20 | 17639289-17639320;M1;17639321-17639331 | 1 | 11 | 1 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 73 | Lumenal | 4.35329458115 |
1219.19436177,5807.84483542 |
0.000000 |
| 1410 | mutation | K.IAGAIGPC:ISLNVK.G | V | I | 426 | 9 | 1 | SEC23B | Q15437 | Acetylation;-Complete-proteome;-Congenital-dyserythropoietic-anemia;Disease-mutation;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Hereditary-hemolytic-anemia;-Membrane;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr20 | 18513322-18513349;M1;18513350-18513370 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs41309927). | 1 | 6 | 1305 | Unknown | 2.90044749292 |
2452.74270315,5807.84483542 |
0.000000 |
| 1411 | mutation | K.G:LCVSEN:ELGVGGTSQWK.I | P | L | 433 | 2 | 1 | SEC23B | Q15437 | Acetylation;-Complete-proteome;-Congenital-dyserythropoietic-anemia;Disease-mutation;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Hereditary-hemolytic-anemia;-Membrane;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr20 | 18513364-18513371;M1;18513372-18513388;18516296-18516332 | 2 | 2 | 8 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs17807673). | 1 | 16 | 3189 | Unknown | 2.90044749292 |
2452.74270315,5807.84483542 |
0.000000 |
| 1412 | mutation | R.GAIQFVTHYQ:QSSTQR.R | H | Q | 489 | 11 | 1 | SEC23B | Q15437 | Acetylation;-Complete-proteome;-Congenital-dyserythropoietic-anemia;Disease-mutation;-Endoplasmic-reticulum;-ER-Golgi-transport;Golgi-apparatus;-Hereditary-hemolytic-anemia;-Membrane;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr20 | 18522966-18523001;M1;18523002-18523020 | 2 | 0 | 15 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | H->Q(indbSNP:rs2273526). | 3 | 10 | 1892 | Unknown | 2.90044749292 |
2452.74270315,5807.84483542 |
0.000000 |
| 1413 | mutation | R.LVGGPMDASVEEEGVW:R.A | R | W | 50 | 16 | 1 | CST3 | P01034 | 3D-structure;-Age-related-macular-degeneration;-Amyloid;-Amyloidosis;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycoprotein;-Phosphoprotein;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Secreted;-Signal;Thiol-protease-inhibitor. | Intracellular | Atlas | chr20 | 23618343-23618351;M1;23618352-23618400 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | - | 1 | 1 | 250 | Unknown | 2.77574495352 |
2384.77477543,5807.84483542 |
0 |
| 1414 | mutation | K.GGADLFVENMPGFPDNIRPSSSR:.G | G | R | 314 | 23 | 1 | APMAP | Q9HDC9 | Acetylation;-Alternative-splicing;-Complete-proteome;-Glycoprotein;Membrane;-Phosphoprotein;-Polymorphism;-Reference-proteome;Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr20 | 24949623-24949628;M1;24949629-24949698 | 1 | 2 | 4 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 245 | Targetable | 1.82289882345 |
3675.7759587,5807.84483542 |
0.000000 |
| 1414 | mutation | K.GGADLFVENMPGFPDNIRPSSSR:.G | G | R | 299 | 23 | 1 | APMAP | H0Y512 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y512,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr20 | 24949623-24949628;M1;24949629-24949698 | 1 | 2 | 4 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 245 | Targetable-Peptide | 1.82289882345 |
3675.7759587,5807.84483542 |
0.000000 |
| 1415 | mutation | R.WLLLCNPGLA:NTIVE:K.I | D | N | 502 | 11 | 1 | PYGB | P11216 | Acetylation;-Allosteric-enzyme;-Carbohydrate-metabolism;Complete-proteome;-Direct-protein-sequencing;-Glycogen-metabolism;Glycosyltransferase;-Phosphoprotein;-Polymorphism;Pyridoxal-phosphate;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr20 | 25262735-25262768;M1;25262769-25262783;25263811-25263817 | 1 | 3 | 9 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(indbSNP:rs2227891). | 27 | 30 | 4529 | Unknown | 4.08395213591 |
1396.90135711,5807.84483542 |
0.000000 |
| 1416 | mutation | R.SLDAQSVYVATDSESYVPELQQ:FFK.G | L | F | 322 | 23 | 1 | POFUT1 | Q9H488 | Alternative-splicing;-Carbohydrate-metabolism;-Complete-proteome;Disulfide-bond;-Endoplasmic-reticulum;-Fucose-metabolism;Glycoprotein;-Glycosyltransferase;-Manganese;-Notch-signaling-pathway;Polymorphism;-Reference-proteome;-Signal;-Transferase. | Intracellular | Atlas | chr20 | 30818780-30818849;M1;30818850-30818861 | 2 | 3 | 4 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | L->F(indbSNP:rs17268666). | 9 | 6 | 811 | Unknown | 3.09666201526 |
2225.41841756,5807.84483542 |
0.000000 |
| 1417 | mutation | K.DR:PLNMILDDGGDLTNLIHTK.Y | G | R | 123 | 2 | 1 | AHCY | P23526 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;-Hydrolase;NAD;-One-carbon-metabolism;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr20 | 32880179-32880241;M1;32880242-32880248 | 2 | 0 | 11 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 250 | Unknown | 5.23629577964 |
803.022620683,5807.84483542 |
0.000000 |
| 1418 | mutation | R.IDDMLNVS:GHLLSTAEVESALVEHEAVAEAAVV:AHPHPVK.G | G | A | 601 | 34 | 1 | ACSS2 | Q9NR19 | Acetylation;-Alternative-splicing;-ATP-binding;-Complete-proteome;Cytoplasm;-Ligase;-Nucleotide-binding;-Phosphoprotein; | Intracellular | Atlas | chr20 | 33513541-33513569;33513907-33513982;M1;33513983-33514005 | 1 | 2 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 113 | Unknown | 1.47993334606 |
4098.87322612,5807.84483542 |
0.000000 |
| 1419 | mutation | R.SDYMFQH:SADGSPALK.Q | R | H | 132 | 7 | 1 | GSS | P48637 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Glutathione-biosynthesis;-Hereditary-hemolytic-anemia;-Ligase;Magnesium;-Metal-binding;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr20 | 33530355-33530386;M1;33530387-33530409 | 1 | 2 | 6 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 18 | 1 | 60 | Unknown | 3.493256641 |
1829.42936806,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q99829 | Acetylation;-Cell-membrane;-Complete-proteome;-Cytoplasm;Differentiation;-Membrane;-Nucleus;-Polymorphism;-Reference-proteome;Repeat;-Repressor;-Transcription;-Transcription-regulation. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX59 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX59,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX60 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX60,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX61 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | E7ENH5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENH5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX45 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX45,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | F2Z2V0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z2V0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX58 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX58,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | E7EV27 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EV27,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | A6PVH9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVH9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX57 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX57,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 36 | 6 | 2 | CPNE1 | B0QZ18 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QZ18,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX53 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX53,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX52 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX52,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX55 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX55,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1420 | mutation | K.SDPLCI:LLQDVGGGSWAE:LGR.T | V | I | 31 | 6 | 2 | CPNE1 | Q5JX56 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX56,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34220606-34220618;34220716-34220754;M1;34220755-34220773 | 1 | 5 | 23 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 11 | 2277 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0.000000 |
| 1421 | mutation | K.YLGAMQV:VDK.K | A | V | 455 | 8 | 1 | CTNNBL1 | Q8WYA6 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Coiled-coil;-Complete-proteome;-Cytoplasm;-mRNA-processing;mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Spliceosome. | Intracellular | Atlas | chr20 | 36470767-36470792;M1;36470793-36470803 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 213 | Unknown | 2.33700380943 |
3111.35238952,5807.84483542 |
0.000000 |
| 1421 | mutation | K.YLGAMQV:VDK.K | A | V | 460 | 8 | 1 | CTNNBL1 | A0A087WUB9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUB9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 36470767-36470792;M1;36470793-36470803 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 213 | Unknown | 2.33700380943 |
3111.35238952,5807.84483542 |
0.000000 |
| 1422 | mutation | R.NEFGEIQGDKSER:.I | M | R | 330 | 13 | 1 | TGM2 | P21980 | 3D-structure;-Acetylation;-Acyltransferase;-Alternative-splicing;Calcium;-Complete-proteome;-Direct-protein-sequencing;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr20 | 36770467-36770471;M1;36770472-36770512 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 185 | 225 | 40 | -4.500000 | Hydrophilic;3.000000 | M->R(inpatientswithearly-onset | 1 | 1 | 71 | Unknown | 4.60746210894 |
1058.87117368,5807.84483542 |
0 |
| 1423 | mutation | R.DYIQSA:METEK.T | T | A | 129 | 6 | 1 | TP53RK | Q96S44 | ATP-binding;-Complete-proteome;-Hydrolase;-Kinase;-Nucleotide-binding;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;Serine/threonine-protein-kinase;-Transferase;-tRNA-processing. | Intracellular | Atlas | chr20 | 45315748-45315768;M1;45315769-45315787 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs11550540). | 3 | 14 | 2742 | Unknown | 2.32986806172 |
2967.89110956,5807.84483542 |
0.000000 |
| 1424 | mutation | K.AEVCHT:CGAAFQEDDVI:VLNGTK.E | M | V | 171 | 18 | 2 | RTFDC1 | A2A2L6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A2L6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 55059224-55059245;55088370-55088403;M1;55088404-55088424 | 1 | 1 | 18 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 48 | 78 | 18723 | Unknown | 1.94702159022 |
3474.35761498,5807.84483542 |
0.000000 |
| 1424 | mutation | K.AEVCHT:CGAAFQEDDVI:VLNGTK.E | M | V | 201 | 18 | 2 | RTFDC1 | A2A2L5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A2L5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 55059224-55059245;55088370-55088403;M1;55088404-55088424 | 1 | 1 | 18 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 48 | 78 | 18723 | Unknown | 1.94702159022 |
3474.35761498,5807.84483542 |
0.000000 |
| 1424 | mutation | K.AEVCHT:CGAAFQEDDVI:VLNGTK.E | M | V | 171 | 18 | 2 | RTFDC1 | Q9BY42 | Complete-proteome;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr20 | 55059224-55059245;55088370-55088403;M1;55088404-55088424 | 1 | 1 | 18 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs1059768). | 48 | 78 | 18723 | Unknown | 1.94702159022 |
3474.35761498,5807.84483542 |
0.000000 |
| 1424 | mutation | K.AEVCHT:CGAAFQEDDVI:VLNGTK.E | M | V | 201 | 18 | 2 | RTFDC1 | A0A0A0MQR2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQR2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 55059224-55059245;55088370-55088403;M1;55088404-55088424 | 1 | 1 | 18 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 48 | 78 | 18723 | Unknown | 1.94702159022 |
3474.35761498,5807.84483542 |
0.000000 |
| 1425 | mutation | R.MGTPVLEA:LGDGEFVK.C | V | L | 184 | 9 | 1 | PCK1 | P35558 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Decarboxylase;-Gluconeogenesis;-GTP-binding;-Lyase;Manganese;-Metal-binding;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr20 | 56137867-56137894;M1;56137895-56137921 | 1 | 3 | 30 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs707555). | 57 | 69 | 3497 | Unknown | 1.38167724709 |
4113.60008064,5807.84483542 |
2.160964 |
| 1426 | mutation | R.ASEDPLLNLVSPLGCEVDVEEGD:VGR.D | L | V | 513 | 24 | 2 | NPEPL1 | Q8NDH3 | Alternative-splicing;-Aminopeptidase;-Complete-proteome;-Hydrolase;Manganese;-Metal-binding;-Polymorphism;-Protease;-Reference-proteome; | Intracellular | Atlas | chr20 | 57290274-57290346;M1;57290347-57290358 | 2 | 0 | 29 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs6026468). | 45 | 54 | 5794 | Unknown | 1.91355102117 |
3574.6327352,5807.84483542 |
0.000000 |
| 1427 | mutation | K.VPS:LGYGSPAAGAASADTAAR.A | P | L | 376 | 4 | 1 | GNAS | Q5JWF2 | ADP-ribosylation;-Alternative-splicing;-Cell-membrane;-Coiled-coil;Complete-proteome;-Cushing-syndrome;-Disease-mutation;-GTP-binding;Magnesium;-Membrane;-Metal-binding;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transducer. | Intracellular | Atlas | chr20 | 57429433-57429446;M1;57429447-57429502 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 74 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 1427 | mutation | K.VPS:LGYGSPAAGAASADTAAR.A | P | L | 376 | 4 | 1 | GNAS | X6R7U9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:X6R7U9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 57429433-57429446;M1;57429447-57429502 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 74 | Unknown | 2.20387564164 |
3248.49171515,5807.84483542 |
0 |
| 1428 | mutation | K.GHYTEGAELIE:SVLEVVR.H | N | S | 115 | 12 | 1 | TUBB1 | Q9H4B7 | Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-GTP-binding;-Isopeptide-bond;-Microtubule;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr20 | 57598788-57598825;M1;57598826-57598848 | 1 | 7 | 12 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 2 | Unknown | 3.74377504522 |
1429.25984088,5807.84483542 |
0.000000 |
| 1429 | mutation | R.:CDCTPCGTEACDPR:.S | H | R | 2036 | 14 | 1 | LAMA5 | O15230 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr20 | 60897767-60897771;M1;60897772-60897814;60898511-60898512 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(indbSNP:rs6143021). | 1 | 40 | 6634 | Unknown | 2.12160276911 |
3335.30136632,5807.84483542 |
0.000000 |
| 1430 | mutation | R.DDPST:PCVSCPCPLSVPSNN:FAEGCVLR.G | A | T | 1908 | 5 | 1 | LAMA5 | O15230 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr20 | 60898884-60898912;60899135-60899181;M1;60899182-60899197 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs11698080). | 9 | 34 | 7196 | Unknown | 2.12160276911 |
3335.30136632,5807.84483542 |
0.000000 |
| 1431 | mutation | R.ALFSQISSAVS:LR.R | F | S | 1807 | 11 | 1 | LAMA5 | O15230 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr20 | 60900470-60900480;M1;60900481-60900515 | 2 | 3 | 43 | 1 | 0 | 0 | 0 | 210 | 115 | -95 | -0.800000 | Hydrophilic;0.300000 | F->S(indbSNP:rs2427284). | 54 | 67 | 12564 | Unknown | 2.12160276911 |
3335.30136632,5807.84483542 |
0.000000 |
| 1432 | mutation | R.DCQVIPLPPGLPLTHAQDLTPAT:SPAGPR.P | M | T | 1258 | 23 | 1 | LAMA5 | O15230 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr20 | 60905855-60905877;M1;60905878-60905948 | 2 | 4 | 6 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->T(indbSNP:rs3810548). | 18 | 64 | 11911 | Unknown | 2.12160276911 |
3335.30136632,5807.84483542 |
0.000000 |
| 1433 | mutation | R.LELEEAATPEGHAM:R.F | V | M | 889 | 14 | 1 | LAMA5 | O15230 | Alternative-splicing;-Basement-membrane;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr20 | 60909307-60909315;M1;60909316-60909358 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs6062223). | 3 | 6 | 739 | Unknown | 2.12160276911 |
3335.30136632,5807.84483542 |
0.000000 |
| 1434 | mutation | R.LAA:ETGEGEGEPLSR.L | T | A | 1568 | 3 | 1 | DIDO1 | Q9BTC0 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr20 | 61512564-61512605;M1;61512606-61512615 | 2 | 10 | 17 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 65 | 1500 | Unknown | 0.557565499012 |
5300.78471449,5807.84483542 |
2.033969 |
| 1435 | mutation | R.FFPLVPDLLSPR:.G | K | R | 166 | 12 | 1 | N6AMT1 | Q9Y5N5 | Alternative-splicing;-Complete-proteome;-Methyltransferase;Polymorphism;-Reference-proteome;-S-adenosyl-L-methionine; | Intracellular | Atlas | chr21 | 30250550-30250554;M1;30250555-30250592 | 1 | 0 | 15 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs2205446). | 1 | 67 | 2639 | Unknown | 0.146391698828 |
5530.07601044,5807.84483542 |
1.854408 |
| 1436 | mutation | K.TSSS:ESSAVISAFFECLR.F | L | S | 403 | 4 | 1 | LTN1 | O94822 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Ligase;Metal-binding;-Polymorphism;-Reference-proteome;-Repeat;Ubl-conjugation;-Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr21 | 30341844-30341890;M1;30341891-30341904 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | L->S(indbSNP:rs2254796). | 41 | 49 | 383 | Unknown | -0.691533672258 |
6655.12405438,5807.84483542 |
0.000000 |
| 1436 | mutation | K.TSSS:ESSAVISAFFECLR.F | L | S | 332 | 4 | 1 | LTN1 | S4R3T2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3T2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 30341844-30341890;M1;30341891-30341904 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | - | 41 | 49 | 383 | Unknown | -0.691533672258 |
6655.12405438,5807.84483542 |
0.000000 |
| 1436 | mutation | K.TSSS:ESSAVISAFFECLR.F | L | S | 449 | 4 | 1 | LTN1 | H7BYG8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BYG8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 30341844-30341890;M1;30341891-30341904 | 1 | 0 | 24 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | - | 41 | 49 | 383 | Unknown | -0.691533672258 |
6655.12405438,5807.84483542 |
0.000000 |
| 1437 | mutation | K.AHEILPNLI:CCSAK.N | V | I | 147 | 9 | 1 | CCT8 | P50990 | Acetylation;-Alternative-splicing;-ATP-binding;-Cell-projection;Chaperone;-Cilium;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Isopeptide-bond;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr21 | 30439314-30439334;M1;30439335-30439362 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 66 | Unknown | 5.24149771987 |
802.700093255,5807.84483542 |
0.000000 |
| 1437 | mutation | K.AHEILPNLI:CCSAK.N | V | I | 139 | 9 | 1 | CCT8 | H7C4C8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4C8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 30439314-30439334;M1;30439335-30439362 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 66 | Unknown | 5.24149771987 |
802.700093255,5807.84483542 |
0.000000 |
| 1438 | mutation | K.ELAQTTC:TAYGPNG:MNK.M | R | C | 44 | 7 | 1 | CCT8 | P50990 | Acetylation;-Alternative-splicing;-ATP-binding;-Cell-projection;Chaperone;-Cilium;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Isopeptide-bond;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr21 | 30441809-30441823;30442567-30442588;M1;30442589-30442610 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 5.24149771987 |
802.700093255,5807.84483542 |
0 |
| 1438 | mutation | K.ELAQTTC:TAYGPNG:MNK.M | R | C | 36 | 7 | 1 | CCT8 | H7C4C8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4C8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 30441809-30441823;30442567-30442588;M1;30442589-30442610 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 250 | Unknown | 5.24149771987 |
802.700093255,5807.84483542 |
0 |
| 1439 | mutation | K.GINLSSGDQNLAPEIG:IQEIALHSGEEPHAEEHLK.G | M | I | 497 | 17 | 1 | SON | H7C1M2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C1M2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 34925989-34926042;M1;34926043-34926100 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 9 | 1231 | Unknown | 1.43456736672 |
4236.86619007,5807.84483542 |
1.000000 |
| 1439 | mutation | K.GINLSSGDQNLAPEIG:IQEIALHSGEEPHAEEHLK.G | M | I | 1502 | 17 | 1 | SON | P18583 | Acetylation;-Alternative-splicing;-Cell-cycle;-Complete-proteome;DNA-binding;-Isopeptide-bond;-mRNA-processing;-mRNA-splicing;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-RNA-binding; | Intracellular | Atlas | chr21 | 34925989-34926042;M1;34926043-34926100 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 9 | 1231 | Unknown | 1.43456736672 |
4236.86619007,5807.84483542 |
1.000000 |
| 1440 | mutation | R.T:MEEGAETPVYLALLPPDATEPQGQLVHDK.V | V | M | 244 | 2 | 1 | CBR3 | O75828 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-NADP;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr21 | 37518699-37518705;M1;37518706-37518795 | 1 | 6 | 4 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(increasedcatalyticactivity; | 9 | 42 | 1226 | Unknown | 3.53535383174 |
1799.54635979,5807.84483542 |
2.082643 |
| 1441 | mutation | K.EAV:TSDGYTALHLAAR.N | M | V | 714 | 3 | 1 | RIPK4 | P57078 | Alternative-splicing;-ANK-repeat;-ATP-binding;-Complete-proteome;Cytoplasm;-Disease-mutation;-Isopeptide-bond;-Kinase;-Membrane;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Receptor;Reference-proteome;-Repeat;-Serine/threonine-protein-kinase;Transferase;-Ubl-conjugation. | Intracellular | Atlas | chr21 | 43161312-43161356;M1;43161357-43161366 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 84 | 6331 | Unknown | -2.11654081867 |
8136.23317293,5807.84483542 |
1.581378 |
| 1442 | mutation | K.G:EDAPLDQGSGAILASTFSN:SGSYFALTDDSK.R | K | N | 71 | 20 | 1 | WDR4 | P57081 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-tRNA-processing;-WD-repeat. | Intracellular | Atlas | chr21 | 44293704-44293743;M1;44293744-44293801;44296811-44296816 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | K->N(indbSNP:rs2248490). | 3 | 61 | 3164 | Unknown | 0.815057226243 |
4779.68703075,5807.84483542 |
2.201824 |
| 1444 | mutation | R.VFQSLPHENKPLTLSNYQTD:K.A | N | D | 88 | 20 | 1 | CSTB | P04080 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Epilepsy;-Nucleus;Protease-inhibitor;-Reference-proteome;-Thiol-protease-inhibitor. | Intracellular | Atlas | chr21 | 45194109-45194117;M1;45194118-45194178 | 2 | 10 | 18 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 3 | 748 | Unknown | 6.16098666413 |
619.394069012,5807.84483542 |
0.000000 |
| 1445 | mutation | K.VVTTPAFMCETA:VHYIHDGIGAMVR.K | L | V | 248 | 13 | 1 | C21orf33 | P30042 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Mitochondrion;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr21 | 45564726-45564765;M1;45564766-45564807 | 2 | 1 | 18 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs2838497). | 22 | 1 | 246 | Unknown | 4.8337118635 |
973.834928041,5807.84483542 |
0.000000 |
| 1445 | mutation | K.VVTTPAFMCETA:VHYIHDGIGAMVR.K | L | V | 237 | 13 | 1 | C21orf33 | H7C1F6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H7C1F6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 45564726-45564765;M1;45564766-45564807 | 2 | 1 | 18 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 22 | 1 | 246 | Unknown | 4.8337118635 |
973.834928041,5807.84483542 |
0.000000 |
| 1446 | mutation | K.A:AAFSPVTELK.K | V | A | 717 | 2 | 1 | PFKL | P17858 | Acetylation;-Allosteric-enzyme;-Alternative-splicing;-ATP-binding;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-Glycolysis;Glycoprotein;-Kinase;-Magnesium;-Metal-binding;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr21 | 45746094-45746101;M1;45746102-45746133 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 250 | Unknown | 4.2279131506 |
1303.88877444,5807.84483542 |
0.000000 |
| 1447 | mutation | K.SAVGELSEDSSNVVH:LIK.N | Q | H | 354 | 15 | 1 | ITGB2 | P05107 | 3D-structure;-Cell-adhesion;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Integrin;-Membrane;-Metal-binding;-Phagocytosis;Phosphoprotein;-Pyrrolidone-carboxylic-acid;-Receptor;Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr21 | 46314894-46314906;M1;46314907-46314954 | 2 | 0 | 131 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | Q->H(indbSNP:rs235330). | 57 | 67 | 11747 | Targetable | 2.83233114355 |
2498.36608016,5807.84483542 |
0.000000 |
| 1448 | mutation | R.GT:DNEVAALQPPVVQLHDSNPY:R.R | P | R | 452 | 23 | 2 | COL18A1 | H7BXV5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7BXV5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 46927498-46927507;46929269-46929330;M1;46929331-46929335 | 1 | 8 | 2 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 3 | 748 | Unknown | 1.96059375728 |
3530.40987558,5807.84483542 |
0.000000 |
| 1448 | mutation | R.GT:DNEVAALQPPVVQLHDSNPY:R.R | P | R | 1519 | 23 | 2 | COL18A1 | P39060 | 3D-structure;-Alternative-promoter-usage;-Alternative-splicing;Cell-adhesion;-Collagen;-Complete-proteome;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr21 | 46927498-46927507;46929269-46929330;M1;46929331-46929335 | 1 | 8 | 2 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 3 | 748 | Unknown | 1.96059375728 |
3530.40987558,5807.84483542 |
0.000000 |
| 1449 | mutation | R.DFQPV:LHLVALNSPLSGGM:QGIR.G | R | Q | 528 | 20 | 2 | COL18A1 | H7BXV5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7BXV5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 46929497-46929515;46929977-46930020;M1;46930021-46930034 | 2 | 6 | 5 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 1.96059375728 |
3530.40987558,5807.84483542 |
0.000000 |
| 1449 | mutation | R.DFQPV:LHLVALNSPLSGGM:QGIR.G | R | Q | 165 | 20 | 2 | COL18A1 | H7C457 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C457,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 46929497-46929515;46929977-46930020;M1;46930021-46930034 | 2 | 6 | 5 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 1.96059375728 |
3530.40987558,5807.84483542 |
0.000000 |
| 1449 | mutation | R.DFQPV:LHLVALNSPLSGGM:QGIR.G | R | Q | 1595 | 20 | 2 | COL18A1 | P39060 | 3D-structure;-Alternative-promoter-usage;-Alternative-splicing;Cell-adhesion;-Collagen;-Complete-proteome;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr21 | 46929497-46929515;46929977-46930020;M1;46930021-46930034 | 2 | 6 | 5 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 249 | Unknown | 1.96059375728 |
3530.40987558,5807.84483542 |
0.000000 |
| 1450 | mutation | R.NDYATMLPDSTEI:NQDTINR.I | D | N | 227 | 14 | 1 | COL6A2 | P12110 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Extracellular-matrix;Glycoprotein;-Hydroxylation;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr21 | 47532413-47532455;M1;47532456-47532479 | 2 | 21 | 59 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(indbSNP:rs35881321). | 60 | 3 | 683 | Unknown | 4.84609084834 |
940.307044897,5807.84483542 |
0.000000 |
| 1451 | mutation | I.QLDDE:HIDSLSSFK.E | R | H | 237 | 6 | 1 | COL6A2 | H7C0M5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0M5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr21 | 47545748-47545767;M1;47545768-47545796 | 2 | 9 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 46 | 10817 | Unknown | 4.84609084834 |
940.307044897,5807.84483542 |
0.000000 |
| 1451 | mutation | I.QLDDE:HIDSLSSFK.E | R | H | 680 | 6 | 1 | COL6A2 | P12110 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Extracellular-matrix;Glycoprotein;-Hydroxylation;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr21 | 47545748-47545767;M1;47545768-47545796 | 2 | 9 | 5 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1042917). | 12 | 46 | 10817 | Unknown | 4.84609084834 |
940.307044897,5807.84483542 |
0.000000 |
| 1452 | mutation | R.VALLQFGGPGEQQVAFPL:R.H | S | R | 895 | 19 | 1 | COL6A2 | P12110 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Extracellular-matrix;Glycoprotein;-Hydroxylation;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr21 | 47552031-47552088;M1;47552089-47552094 | 1 | 17 | 2 | 1 | 0 | 1 | 1 | 115 | 225 | 110 | -4.500000 | Hydrophilic;3.000000 | S->R(indbSNP:rs141233891). | 6 | 1 | 250 | Unknown | 4.84609084834 |
940.307044897,5807.84483542 |
0.000000 |
| 1453 | mutation | R.KQNVVPTVLALGS:NVDMDVLTTLSLGD:R.A | D | N | 979 | 14 | 1 | COL6A2 | P12110 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Extracellular-matrix;Glycoprotein;-Hydroxylation;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr21 | 47552298-47552340;M1;47552341-47552384;M1;47552385-47552388 | 2 | 10 | 134 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 23 | 11350 | Unknown | 4.84609084834 |
940.307044897,5807.84483542 |
0.000000 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 182 | 12 | 2 | ADAP1 | H7BZT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BZT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 175 | 12 | 2 | ADAP1 | H7C264 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C264,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 224 | 12 | 2 | ADAP1 | H0Y7Q1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7Q1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 146 | 12 | 2 | ADAP1 | A0A087WTN6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTN6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 241 | 12 | 2 | ADAP1 | O75689 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-GTPase-activation;-Metal-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs10256887). | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1455 | mutation | R.FHYLQVAFPGAS:DAD:LVPK.L | G | S | 112 | 12 | 2 | ADAP1 | H7C324 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C324,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 939786-939801;940169-940180;M1;940181-940217 | 2 | 1 | 12 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 64 | 5157 | Unknown | -0.467625836056 |
6372.93066741,5807.84483542 |
1.730757 |
| 1456 | mutation | R.LH:EDHSQLQAECER.L | R | H | 109 | 2 | 1 | MAD1L1 | C9JP81 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JP81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 1976416-1976456;M1;1976457-1976464 | 2 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 39 | 4325 | Unknown | 1.2961158709 |
4344.92697838,5807.84483542 |
1.941015 |
| 1456 | mutation | R.LH:EDHSQLQAECER.L | R | H | 14 | 2 | 1 | MAD1L1 | C9JKI7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JKI7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 1976416-1976456;M1;1976457-1976464 | 2 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 39 | 4325 | Unknown | 1.2961158709 |
4344.92697838,5807.84483542 |
1.941015 |
| 1456 | mutation | R.LH:EDHSQLQAECER.L | R | H | 558 | 2 | 1 | MAD1L1 | Q9Y6D9 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-cycle;Cell-division;-Centromere;-Chromosome;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Isopeptide-bond;Kinetochore;-Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr7 | 1976416-1976456;M1;1976457-1976464 | 2 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(inacancercellline; | 3 | 39 | 4325 | Unknown | 1.2961158709 |
4344.92697838,5807.84483542 |
1.941015 |
| 1457 | mutation | R.KDLYAD:TVLSGGTTMYPGIADR.M | N | D | 296 | 6 | 1 | ACTB | P60709 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Dystonia;-Isopeptide-bond;-Mental-retardation;-Methylation;Nucleotide-binding;-Oxidation;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr7 | 5567679-5567732;M1;5567733-5567751 | 1 | 0 | 17 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 39 | 1 | 249 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0.000000 |
| 1458 | mutation | M.DSGDGVTHTVPV:YEGYALPHAILR.L | I | V | 165 | 12 | 1 | ACTB | P60709 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Dystonia;-Isopeptide-bond;-Mental-retardation;-Methylation;Nucleotide-binding;-Oxidation;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr7 | 5568179-5568220;M1;5568221-5568257 | 2 | 8 | 14 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 7 | 1745 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0.000000 |
| 1459 | mutation | R.VAPEEHPVLLTEAPV:NPKA.N | L | V | 110 | 15 | 1 | ACTB | G5E9R0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G5E9R0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 5568809-5568826;M1;5568827-5568872 | 2 | 12 | 82 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 116 | 3 | 750 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0.000000 |
| 1459 | mutation | R.VAPEEHPVLLTEAPV:NPKA.N | L | V | 110 | 15 | 1 | ACTB | E7EVS6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVS6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 5568809-5568826;M1;5568827-5568872 | 2 | 12 | 82 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 116 | 3 | 750 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0.000000 |
| 1459 | mutation | R.VAPEEHPVLLTEAPV:NPKA.N | L | V | 110 | 15 | 1 | ACTB | P60709 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Direct-protein-sequencing;-Disease-mutation;Dystonia;-Isopeptide-bond;-Mental-retardation;-Methylation;Nucleotide-binding;-Oxidation;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr7 | 5568809-5568826;M1;5568827-5568872 | 2 | 12 | 82 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 116 | 3 | 750 | Unknown | 0.404891540777 |
5157.83075005,5807.84483542 |
0.000000 |
| 1460 | mutation | K.SAYV:NYDVQK.R | S | N | 134 | 5 | 1 | TMEM106B | Q9NUM4 | Amyotrophic-lateral-sclerosis;-Complete-proteome;-Endosome;Glycoprotein;-Lipoprotein;-Lysosome;-Membrane;-Myristate;Neurodegeneration;-Phosphoprotein;-Polymorphism;-Reference-proteome;Signal-anchor;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 12263954-12263970;M1;12263971-12263990 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 3 | 643 | Lumenal | 0.984164451689 |
4691.17383156,5807.84483542 |
0.000000 |
| 1461 | mutation | R.LNNI:SIIGPLDMK.Q | T | S | 185 | 5 | 1 | TMEM106B | Q9NUM4 | Amyotrophic-lateral-sclerosis;-Complete-proteome;-Endosome;Glycoprotein;-Lipoprotein;-Lysosome;-Membrane;-Myristate;Neurodegeneration;-Phosphoprotein;-Polymorphism;-Reference-proteome;Signal-anchor;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 12269400-12269416;M1;12269417-12269445 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs3173615). | 3 | 58 | 6486 | Lumenal | 0.984164451689 |
4691.17383156,5807.84483542 |
0.000000 |
| 1462 | mutation | K.NLGIDFEDI:K.H | R | K | 554 | 10 | 1 | AHR | P35869 | Acetylation;-Activator;-Biological-rhythms;-Cell-cycle;Complete-proteome;-Cytoplasm;-DNA-binding;-Nucleus;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Repressor;-Transcription; | Intracellular | Atlas | chr7 | 17379078-17379109;M1;17379110-17379114 | 1 | 5 | 2 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | R->K(indbSNP:rs2066853). | 6 | 24 | 2356 | Unknown | -0.670921591764 |
6643.07894677,5807.84483542 |
3.283927 |
| 1463 | mutation | R.QV:GDFHQ:VIIR.G | A | V | 435 | 2 | 1 | CPVL | Q9H3G5 | Carboxypeptidase;-Complete-proteome;-Glycoprotein;-Hydrolase;Polymorphism;-Protease;-Reference-proteome;-Signal;-Zymogen. | Intracellular | Atlas | chr7 | 29035483-29035498;29070192-29070208;M1;29070209-29070216 | 2 | 4 | 40 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs7313). | 27 | 40 | 5964 | Unknown | 2.34508833251 |
2991.32564372,5807.84483542 |
0.000000 |
| 1463 | mutation | R.QV:GDFHQ:VIIR.G | A | V | 139 | 2 | 1 | CPVL | H7C0X5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C0X5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 29035483-29035498;29070192-29070208;M1;29070209-29070216 | 2 | 4 | 40 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 27 | 40 | 5964 | Unknown | 2.34508833251 |
2991.32564372,5807.84483542 |
0.000000 |
| 1463 | mutation | R.QV:GDFHQ:VIIR.G | A | V | 100 | 2 | 1 | CPVL | H7C218 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C218,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 29035483-29035498;29070192-29070208;M1;29070209-29070216 | 2 | 4 | 40 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 27 | 40 | 5964 | Unknown | 2.34508833251 |
2991.32564372,5807.84483542 |
0.000000 |
| 1464 | mutation | R.S:SEEAGFPGDPHEDK.Q | P | S | 115 | 2 | 1 | PRR15 | Q8IV56 | Complete-proteome;-Developmental-protein;-Polymorphism; | Intracellular | Atlas | chr7 | 29606281-29606287;M1;29606288-29606332 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs10271996). | 3 | 48 | 7420 | Unknown | 0.542020153446 |
5002.65045139,5807.84483542 |
0.000000 |
| 1465 | mutation | K.SPI:IGNDLSPPVSFNLMFK.T | T | I | 268 | 4 | 1 | GARS | P41250 | 3D-structure;-Acetylation;-Aminoacyl-tRNA-synthetase;-ATP-binding;Cell-projection;-Charcot-Marie-Tooth-disease;-Complete-proteome;Cytoplasm;-Disease-mutation;-Hydrolase;-Ligase;-Mitochondrion;Neurodegeneration;-Neuropathy;-Nucleotide-binding;-Phosphoprotein;Protein-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr7 | 30649254-30649267;M1;30649268-30649317 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs2230310). | 3 | 1 | 121 | Unknown | 3.64925268497 |
1720.65753633,5807.84483542 |
0.000000 |
| 1466 | mutation | R.TFDTYIGQGYVIPGMD:K.G | E | K | 88 | 17 | 2 | FKBP9 | C9J4P8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J4P8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 33028131-33028182;M1;33028183-33028188 | 2 | 0 | 5 | 1 | -1 | 1 | 2 | 190 | 200 | 10 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 34 | Unknown | 3.40637361212 |
1937.5694877,5807.84483542 |
0.000000 |
| 1466 | mutation | R.TFDTYIGQGYVIPGMD:K.G | E | K | 320 | 17 | 2 | FKBP9 | O95302 | Alternative-splicing;-Calcium;-Complete-proteome;Endoplasmic-reticulum;-Glycoprotein;-Isomerase;-Metal-binding;Phosphoprotein;-Reference-proteome;-Repeat;-Rotamase;-Signal. | Intracellular | Atlas | chr7 | 33028131-33028182;M1;33028183-33028188 | 2 | 0 | 5 | 1 | -1 | 1 | 2 | 190 | 200 | 10 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 34 | Unknown | 3.40637361212 |
1937.5694877,5807.84483542 |
0.000000 |
| 1467 | mutation | R.LLDTAFDLD:IFK.- | V | I | 1029 | 10 | 1 | OGDH | E9PDF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDF2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 44747547-44747577;M1;44747578-44747586 | 2 | 3 | 28 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 4 | 997 | Unknown | 3.69097414704 |
1704.99656423,5807.84483542 |
0.000000 |
| 1467 | mutation | R.LLDTAFDLD:IFK.- | V | I | 1018 | 10 | 1 | OGDH | Q02218 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Complete-proteome;-Glycolysis;-Isopeptide-bond;-Metal-binding;Mitochondrion;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Thiamine-pyrophosphate;-Transit-peptide; | Intracellular | Atlas | chr7 | 44747547-44747577;M1;44747578-44747586 | 2 | 3 | 28 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2070607). | 1 | 4 | 997 | Unknown | 3.69097414704 |
1704.99656423,5807.84483542 |
0.000000 |
| 1467 | mutation | R.LLDTAFDLD:IFK.- | V | I | 868 | 10 | 1 | OGDH | E9PFG7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PFG7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 44747547-44747577;M1;44747578-44747586 | 2 | 3 | 28 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 4 | 997 | Unknown | 3.69097414704 |
1704.99656423,5807.84483542 |
0.000000 |
| 1467 | mutation | R.LLDTAFDLD:IFK.- | V | I | 1033 | 10 | 1 | OGDH | E9PCR7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PCR7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 44747547-44747577;M1;44747578-44747586 | 2 | 3 | 28 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 4 | 997 | Unknown | 3.69097414704 |
1704.99656423,5807.84483542 |
0.000000 |
| 1468 | mutation | R.GGGEQD:TQELASK.R | E | D | 30 | 6 | 1 | PURB | Q96QR8 | Acetylation;-Complete-proteome;-DNA-binding;-Nucleus;-Phosphoprotein;Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr7 | 44924833-44924857;M1;44924858-44924878 | 1 | 9 | 3 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 76 | Unknown | 3.42030563775 |
1926.31896403,5807.84483542 |
0.000000 |
| 1469 | mutation | R.IFLQTLDT:HHR.H | M | T | 489 | 8 | 1 | MYO1G | B0I1T2 | Acetylation;-Actin-binding;-Adaptive-immunity;-Alternative-splicing;ATP-binding;-Calmodulin-binding;-Cell-membrane;-Cell-projection;Complete-proteome;-Direct-protein-sequencing;-Immunity;-Lipid-binding;Membrane;-Motor-protein;-Myosin;-Nucleotide-binding;-Polymorphism; | Intracellular | Atlas | chr7 | 45009327-45009340;M1;45009341-45009366 | 1 | 1 | 11 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->T(indbSNP:rs3735485). | 33 | 76 | 1419 | Unknown | 0.579685989246 |
5104.63132741,5807.84483542 |
2.126534 |
| 1470 | mutation | K.VID:PVTGKPCAGTTYLESPL:TSETTQLSK.N | S | T | 111 | 21 | 3 | MRPS17 | E9PE17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PE17};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 56022745-56022759;M1;56022760-56022809;M1;56022810-56022838 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 5 | 1827 | Unknown | 3.00448165217 |
2301.57591877,5807.84483542 |
0.000000 |
| 1470 | mutation | K.VID:PVTGKPCAGTTYLESPL:TSETTQLSK.N | S | T | 111 | 21 | 3 | MRPS17 | Q9Y2R5 | 3D-structure;-Complete-proteome;-Mitochondrion;-Reference-proteome;Ribonucleoprotein;-Ribosomal-protein;-RNA-binding;-rRNA-binding; | Intracellular | Atlas | chr7 | 56022745-56022759;M1;56022760-56022809;M1;56022810-56022838 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 6 | 5 | 1827 | Unknown | 3.00448165217 |
2301.57591877,5807.84483542 |
0.000000 |
| 1471 | mutation | K.RVEDA:CILTCNVSLEYEK:.T | Y | C | 229 | 6 | 1 | CCT6A | P40227 | Acetylation;-Alternative-splicing;-ATP-binding;-Chaperone;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr7 | 56125737-56125756;M1;56125757-56125796;56126054-56126055 | 2 | 3 | 12 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | Y->C(indbSNP:rs33922584). | 13 | 26 | 1311 | Unknown | 4.8636330208 |
951.256301692,5807.84483542 |
0.000000 |
| 1472 | mutation | R.LALSPNAQI:LALASGSSIHLYNTR.R | V | I | 345 | 9 | 1 | TBL2 | Q9Y4P3 | Complete-proteome;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-WD-repeat;-Williams-Beuren-syndrome. | Intracellular | Atlas | chr7 | 72985097-72985147;M1;72985148-72985175 | 2 | 12 | 18 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs35607697). | 6 | 9 | 1134 | Unknown | - |
- |
2.215363 |
| 1472 | mutation | R.LALSPNAQI:LALASGSSIHLYNTR.R | V | I | 309 | 9 | 1 | TBL2 | E9PF19 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PF19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 72985097-72985147;M1;72985148-72985175 | 2 | 12 | 18 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 9 | 1134 | Unknown | - |
- |
2.215363 |
| 1472 | mutation | R.LALSPNAQI:LALASGSSIHLYNTR.R | V | I | 345 | 9 | 1 | TBL2 | Q96E41 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q96E41,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 72985097-72985147;M1;72985148-72985175 | 2 | 12 | 18 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 9 | 1134 | Unknown | - |
- |
2.215363 |
| 1473 | mutation | R.YSLID:PSSAPELLR.L | R | P | 977 | 6 | 1 | CLIP2 | Q9UDT6 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Microtubule;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr7 | 73814729-73814748;M1;73814749-73814777 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 145 | -80 | -1.600000 | 0.000000 | R->P(indbSNP:rs2522943). | 7 | 67 | 4107 | Unknown | - |
- |
1.860289 |
| 1474 | mutation | R.AKEP:VGENGGR.A | A | V | 554 | 5 | 1 | POR | H0Y4R2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4R2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 75614989-75615005;M1;75615006-75615028 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 24 | 5281 | Unknown | - |
- |
0.000000 |
| 1474 | mutation | R.AKEP:VGENGGR.A | A | V | 241 | 5 | 1 | POR | E7EMD0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMD0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 75614989-75615005;M1;75615006-75615028 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 24 | 5281 | Unknown | - |
- |
0.000000 |
| 1474 | mutation | R.AKEP:VGENGGR.A | A | V | 500 | 5 | 1 | POR | P16435 | 3D-structure;-Acetylation;-Complete-proteome;Congenital-adrenal-hyperplasia;-Craniosynostosis;Direct-protein-sequencing;-Disease-mutation;-Endoplasmic-reticulum;FAD;-Flavoprotein;-FMN;-Membrane;-NADP;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transmembrane; | Membrane-Bound | Atlas | chr7 | 75614989-75615005;M1;75615006-75615028 | 1 | 5 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs1057868). | 3 | 24 | 5281 | Lumenal | - |
- |
0.000000 |
| 1475 | mutation | K.CEEAE:ECPYQVSLPPLTIQLPK.Q | G | E | 53 | 5 | 2 | FGL2 | Q14314 | Coiled-coil;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr7 | 76828897-76828952;M1;76828953-76828969 | 1 | 6 | 2 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | G->E(indbSNP:rs2075761). | 6 | 13 | 343 | Unknown | 1.44863856374 |
3976.60181431,5807.84483542 |
1.000000 |
| 1476 | mutation | K.TVSLTPSP:ATQVETPDLVDHDNTSPLFR.T | T | A | 81 | 9 | 1 | PTPN12 | H3BM04 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BM04,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 77256685-77256712;M1;77256713-77256775 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 21 | 4402 | Unknown | 1.82957642198 |
3734.47272454,5807.84483542 |
0.000000 |
| 1476 | mutation | K.TVSLTPSP:ATQVETPDLVDHDNTSPLFR.T | T | A | 573 | 9 | 1 | PTPN12 | Q05209 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-junction;Cell-projection;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-Hydrolase;Phosphoprotein;-Polymorphism;-Protein-phosphatase;-Reference-proteome. | Intracellular | Atlas | chr7 | 77256685-77256712;M1;77256713-77256775 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs3750050). | 3 | 21 | 4402 | Unknown | 1.82957642198 |
3734.47272454,5807.84483542 |
0.000000 |
| 1477 | mutation | K.INQYPESNAEYLT:HLVPGAHVVK.A | A | T | 122 | 13 | 1 | STEAP4 | C9JS50 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JS50,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 87913185-87913220;M1;87913221-87913260 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 11 | 90 | Intra-Cellular-Peptide | -0.116532304712 |
6202.66145689,5807.84483542 |
0.000000 |
| 1477 | mutation | K.INQYPESNAEYLT:HLVPGAHVVK.A | A | T | 122 | 13 | 1 | STEAP4 | Q687X5 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Copper;-FAD;Flavoprotein;-Glycoprotein;-Golgi-apparatus;-Heme;-Ion-transport;Iron;-Iron-transport;-Membrane;-Metal-binding;-NAD;-Oxidoreductase;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr7 | 87913185-87913220;M1;87913221-87913260 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs34741656). | 1 | 11 | 90 | Intra-Cellular-Peptide | -0.116532304712 |
6202.66145689,5807.84483542 |
0.000000 |
| 1478 | mutation | K.SQFLEEG:IGGTIPHVSPER.V | M | I | 475 | 8 | 1 | STEAP2 | Q8NFT2 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Copper;Electron-transport;-Endosome;-FAD;-Flavoprotein;-Heme;-Ion-transport;Iron;-Iron-transport;-Membrane;-Metal-binding;-NAD;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 89861863-89861889;M1;89861890-89861926 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | M->I(indbSNP:rs194525). | 24 | 77 | 1598 | Intra-Cellular-Peptide | -0.988290358263 |
7151.10887691,5807.84483542 |
0.000000 |
| 1479 | mutation | K.VELT:EDKIDYTK.E | I | T | 143 | 4 | 1 | SAMD9 | Q5K651 | Complete-proteome;-Cytoplasm;-Disease-mutation;-Polymorphism; | Intracellular | Atlas | chr7 | 92734954-92734982;M1;92734983-92734996 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs6969691). | 3 | 18 | 368 | Unknown | 1.13251390609 |
4528.53418354,5807.84483542 |
2.707249 |
| 1479 | mutation | K.VELT:EDKIDYTK.E | I | T | 143 | 4 | 1 | SAMD9 | C9JKF1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JKF1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 92734954-92734982;M1;92734983-92734996 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 18 | 368 | Unknown | 1.13251390609 |
4528.53418354,5807.84483542 |
2.707249 |
| 1480 | mutation | K.CE:IALNILEENLFYDSGIGR.D | Q | E | 1010 | 2 | 1 | SAMD9L | Q8IVG5 | Alternative-splicing;-Complete-proteome;-Polymorphism; | Intracellular | Atlas | chr7 | 92762197-92762256;M1;92762257-92762263 | 1 | 5 | 2 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 39 | Unknown | -0.11031606398 |
6018.30003981,5807.84483542 |
0.000000 |
| 1481 | mutation | R.:GEAGAAGPAGPAGP:QGSP:GER.G | R | Q | 708 | 15 | 1 | COL1A2 | P08123 | Calcium;-Chromosomal-rearrangement;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;-Dwarfism;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Metal-binding;-Osteogenesis-imperfecta;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr7 | 94048860-94048863;94049544-94049587;M1;94049588-94049598;94049702-94049714 | 1 | 2 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(inMarfansyndrome; | 3 | 2 | 334 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0.000000 |
| 1481 | mutation | R.:GEAGAAGPAGPAGP:QGSP:GER.G | R | Q | 706 | 15 | 1 | COL1A2 | A0A087WTA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 94048860-94048863;94049544-94049587;M1;94049588-94049598;94049702-94049714 | 1 | 2 | 2 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 2 | 334 | Unknown | 4.28495363972 |
1210.16464127,5807.84483542 |
0.000000 |
| 1482 | mutation | K.GIE:TGSEDM:EILPNGLAFISS:GLK.Y | L | M | 55 | 9 | 1 | PON1 | P27169 | 3D-structure;-Calcium;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-HDL;-Hydrolase;-Metal-binding;Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr7 | 94944790-94944802;94946045-94946083;M1;94946084-94946101;94947634-94947644 | 2 | 3 | 38 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | L->M(indbSNP:rs854560). | 1 | 8 | 84 | Unknown | 3.03764530266 |
2233.13430294,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 169 | 4 | 1 | PON2 | A0A0J9YXF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YXF2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 107 | 38 | 8128 | Intra-Cellular-Peptide | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 62 | 4 | 1 | PON2 | A0A0J9YXU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YXU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 107 | 38 | 8128 | Unknown | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 136 | 4 | 1 | PON2 | J3QT77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QT77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 107 | 38 | 8128 | Unknown | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 148 | 4 | 1 | PON2 | G3XAK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3XAK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 107 | 38 | 8128 | Unknown | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 148 | 4 | 1 | PON2 | A0A0J9YYG4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YYG4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 107 | 38 | 8128 | Unknown | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1483 | mutation | K.FEEG:ENSLLHLK.T | A | G | 148 | 4 | 1 | PON2 | Q15165 | Alternative-splicing;-Calcium;-Complete-proteome;-Disulfide-bond;Glycoprotein;-Hydrolase;-Membrane;-Metal-binding;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr7 | 95040987-95041015;M1;95041016-95041029 | 1 | 0 | 58 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(associatedwithelevatedmean | 107 | 38 | 8128 | Unknown | 3.27147911546 |
2065.72907193,5807.84483542 |
0.000000 |
| 1484 | mutation | R.DE:PLHALYDNVEK.L | V | E | 210 | 2 | 1 | ASNS | F8WEJ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WEJ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 97488531-97488568;M1;97488569-97488576 | 2 | 4 | 93 | 1 | 0 | -1 | -1 | 155 | 190 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 51 | 61 | 10254 | Unknown | 2.16349872364 |
3208.22232801,5807.84483542 |
1.558258 |
| 1484 | mutation | R.DE:PLHALYDNVEK.L | V | E | 210 | 2 | 1 | ASNS | P08243 | Acetylation;-Alternative-splicing;-Amino-acid-biosynthesis;Asparagine-biosynthesis;-ATP-binding;-Complete-proteome;Disease-mutation;-Glutamine-amidotransferase;-Ligase;Mental-retardation;-Nucleotide-binding;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr7 | 97488531-97488568;M1;97488569-97488576 | 2 | 4 | 93 | 1 | 0 | -1 | -1 | 155 | 190 | 35 | -3.500000 | Hydrophilic;3.000000 | V->E(indbSNP:rs1049674). | 51 | 61 | 10254 | Unknown | 2.16349872364 |
3208.22232801,5807.84483542 |
1.558258 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9JFG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JFG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9J6C8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J6C8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9J4Z7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J4Z7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9JQM8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JQM8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | F8VXW2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VXW2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | O15143 | Acetylation;-Actin-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-WD-repeat. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | K->N(indbSNP:rs1045012). | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9JBJ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JBJ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9K057 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9K057,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9JTT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JTT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1485 | mutation | R.T:QIAICPNNHEVHIYE:NSGAK.W | K | N | 37 | 17 | 2 | ARPC1B | C9JEY1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JEY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98983394-98983401;98984307-98984353;M1;98984354-98984369 | 1 | 0 | 4 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9JFG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JFG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9J6C8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J6C8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9J4Z7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J4Z7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9JQM8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JQM8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | F8VXW2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VXW2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | O15143 | Acetylation;-Actin-binding;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-WD-repeat. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | K->N(indbSNP:rs1045012). | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9JBJ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JBJ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9K057 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9K057,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9JTT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JTT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1486 | mutation | N.NHEVHIYE:NSGAK.W | K | N | 37 | 9 | 2 | ARPC1B | C9JEY1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JEY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 98984324-98984353;M1;98984354-98984369 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 7 | 1750 | Unknown | 4.69901092268 |
1034.41450997,5807.84483542 |
0.000000 |
| 1487 | mutation | K.HVEDVPAFQALGSLD:DLQFFR.Y | N | D | 25 | 15 | 1 | AZGP1 | H7BZJ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7BZJ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 99569522-99569545;M1;99569546-99569591 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 39 | 1 | 1 | Unknown | 4.16458293016 |
1311.97761967,5807.84483542 |
0.000000 |
| 1487 | mutation | K.HVEDVPAFQALGSLD:DLQFFR.Y | N | D | 54 | 15 | 1 | AZGP1 | P25311 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr7 | 99569522-99569545;M1;99569546-99569591 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 39 | 1 | 1 | Unknown | 4.16458293016 |
1311.97761967,5807.84483542 |
0.000000 |
| 1487 | mutation | K.HVEDVPAFQALGSLD:DLQFFR.Y | N | D | 51 | 15 | 1 | AZGP1 | C9JEV0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JEV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 99569522-99569545;M1;99569546-99569591 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 39 | 1 | 1 | Unknown | 4.16458293016 |
1311.97761967,5807.84483542 |
0.000000 |
| 1488 | mutation | K.VPNACLFT:MNKEDH:PLGNIIK.S | T | P | 40 | 15 | 2 | POLR2J3 | Q9H1A7 | Complete-proteome;-DNA-directed-RNA-polymerase;-Nucleus;Reference-proteome;-Transcription. | Intracellular | Atlas | chr7 | 102209989-102209990;102210281-102210303;M1;102210304-102210319;M1;102210320-102210349 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 1 | 56 | 27898 | Unknown | -0.0235420643925 |
6273.25596183,5807.84483542 |
0.000000 |
| 1489 | mutation | R.LCTSVTES:DVAR.A | E | D | 396 | 9 | 1 | PMPCB | G3V0E4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V0E4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 102952093-102952122;M1;102952123-102952135 | 1 | 0 | 6 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 17 | 10 | 2122 | Unknown | 3.09076321811 |
2236.19850487,5807.84483542 |
0.000000 |
| 1489 | mutation | R.LCTSVTES:DVAR.A | E | D | 396 | 9 | 1 | PMPCB | O75439 | Complete-proteome;-Direct-protein-sequencing;-Hydrolase;Metal-binding;-Metalloprotease;-Mitochondrion;-Polymorphism;-Protease;Reference-proteome;-Transit-peptide;-Zinc. | Intracellular | Atlas | chr7 | 102952093-102952122;M1;102952123-102952135 | 1 | 0 | 6 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs3087615). | 17 | 10 | 2122 | Unknown | 3.09076321811 |
2236.19850487,5807.84483542 |
0.000000 |
| 1490 | mutation | R.STQAPLIIRPDSGNPLN:TVLK:.V | D | N | 319 | 17 | 1 | NAMPT | P43490 | 3D-structure;-Acetylation;-Biological-rhythms;-Complete-proteome;Cytokine;-Cytoplasm;-Glycosyltransferase;-Nucleus;-Phosphoprotein;Polymorphism;-Pyridine-nucleotide-biosynthesis;-Reference-proteome; | Intracellular | Atlas | chr7 | 105902150-105902153;105903837-105903851;M1;105903852-105903903 | 1 | 2 | 27 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 50 | 4923 | Unknown | 4.61327527441 |
1074.15361962,5807.84483542 |
1.344361 |
| 1490 | mutation | R.STQAPLIIRPDSGNPLN:TVLK:.V | D | N | 319 | 17 | 1 | NAMPT | A0A0C4DFS8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DFS8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 105902150-105902153;105903837-105903851;M1;105903852-105903903 | 1 | 2 | 27 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 50 | 4923 | Unknown | 4.61327527441 |
1074.15361962,5807.84483542 |
1.344361 |
| 1491 | mutation | K.DIQD:CLTVS:NEVQTAK.E | S | C | 215 | 5 | 1 | CAPZA2 | P47755 | Acetylation;-Actin-capping;-Actin-binding;-Alternative-splicing;Complete-proteome;-Direct-protein-sequencing;-Phosphoprotein; | Intracellular | Atlas | chr7 | 116552164-116552180;M1;116552181-116552194;116556113-116556137 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 2 | 253 | Unknown | 5.01410618855 |
900.273919195,5807.84483542 |
0.000000 |
| 1493 | mutation | R.SWDSSSPVDH:PEPEAASPTTR.T | R | H | 320 | 10 | 1 | ZC3HC1 | C9J0I9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J0I9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 129663458-129663495;M1;129663496-129663527 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 8 | 45 | 4857 | Unknown | 1.59044764798 |
3970.7092603,5807.84483542 |
2.403348 |
| 1493 | mutation | R.SWDSSSPVDH:PEPEAASPTTR.T | R | H | 363 | 10 | 1 | ZC3HC1 | Q86WB0 | Acetylation;-Alternative-splicing;-Cell-cycle;-Cell-division;Complete-proteome;-Metal-binding;-Mitosis;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation-pathway;-Zinc; | Intracellular | Atlas | chr7 | 129663458-129663495;M1;129663496-129663527 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs11556924). | 8 | 45 | 4857 | Unknown | 1.59044764798 |
3970.7092603,5807.84483542 |
2.403348 |
| 1494 | mutation | K.VVSLNGELGDSWII:PLDNLTK.D | V | I | 540 | 14 | 1 | PODXL | O00592 | Alternative-splicing;-Cell-adhesion;-Cell-membrane;-Cell-projection;Complete-proteome;-Direct-protein-sequencing;-Glycoprotein;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr7 | 131189102-131189128;M1;131189129-131189171 | 1 | 1 | 8 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 21 | 1 | 101 | Intra-Cellular-Peptide | 2.07594882476 |
3294.41139335,5807.84483542 |
0.000000 |
| 1495 | mutation | K.EAEGAPQ:MEAGK.R | V | M | 275 | 8 | 1 | CALD1 | C9J813 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J813,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632289-134632313;M1;134632314-134632331 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1495 | mutation | K.EAEGAPQ:MEAGK.R | V | M | 295 | 8 | 1 | CALD1 | E7EX44 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632289-134632313;M1;134632314-134632331 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1495 | mutation | K.EAEGAPQ:MEAGK.R | V | M | 269 | 8 | 1 | CALD1 | E9PGZ1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGZ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632289-134632313;M1;134632314-134632331 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1495 | mutation | K.EAEGAPQ:MEAGK.R | V | M | 530 | 8 | 1 | CALD1 | Q05682 | Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Muscle-protein;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr7 | 134632289-134632313;M1;134632314-134632331 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1496 | mutation | K.QQEA:VLELEELKK.K | A | V | 307 | 5 | 1 | CALD1 | C9J813 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J813,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632394-134632410;M1;134632411-134632439 | 1 | 9 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 228 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1496 | mutation | K.QQEA:VLELEELKK.K | A | V | 327 | 5 | 1 | CALD1 | E7EX44 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632394-134632410;M1;134632411-134632439 | 1 | 9 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 228 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1496 | mutation | K.QQEA:VLELEELKK.K | A | V | 301 | 5 | 1 | CALD1 | E9PGZ1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGZ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134632394-134632410;M1;134632411-134632439 | 1 | 9 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 228 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1496 | mutation | K.QQEA:VLELEELKK.K | A | V | 562 | 5 | 1 | CALD1 | Q05682 | Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Muscle-protein;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr7 | 134632394-134632410;M1;134632411-134632439 | 1 | 9 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 228 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0 |
| 1497 | mutation | K.GNVFSSPTA:TGTPNK:.E | A | T | 492 | 10 | 1 | CALD1 | E7EX44 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134644814-134644844;M1;134644845-134644862;134645283-134645286 | 1 | 11 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0.000000 |
| 1497 | mutation | K.GNVFSSPTA:TGTPNK:.E | A | T | 467 | 10 | 1 | CALD1 | E9PGZ1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGZ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 134644814-134644844;M1;134644845-134644862;134645283-134645286 | 1 | 11 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0.000000 |
| 1497 | mutation | K.GNVFSSPTA:TGTPNK:.E | A | T | 728 | 10 | 1 | CALD1 | Q05682 | Actin-binding;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Muscle-protein;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr7 | 134644814-134644844;M1;134644845-134644862;134645283-134645286 | 1 | 11 | 2 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 250 | Unknown | 4.62475923771 |
1049.20784343,5807.84483542 |
0.000000 |
| 1500 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 279 | 16 | 1 | ZYX | H0Y2Y8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};LIM-domain-{ECO:0000256|RuleBase:RU000350};Proteomics-identification-{ECO:0000213|EPD:H0Y2Y8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1500 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 311 | 16 | 1 | ZYX | Q15942 | Acetylation;-Alternative-splicing;-Cell-adhesion;-Cell-junction;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Host-virus-interaction;-LIM-domain;-Metal-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Zinc. | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1500 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 128 | 16 | 1 | ZYX | H7C3D3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C3D3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1501 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 279 | 16 | 1 | ZYX | H0Y2Y8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};LIM-domain-{ECO:0000256|RuleBase:RU000350};Proteomics-identification-{ECO:0000213|EPD:H0Y2Y8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1501 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 311 | 16 | 1 | ZYX | Q15942 | Acetylation;-Alternative-splicing;-Cell-adhesion;-Cell-junction;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Host-virus-interaction;-LIM-domain;-Metal-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Zinc. | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1501 | mutation | K.LGH:PEALSAGTGSPQ:TPSFTYAQQR.E | P | T | 128 | 16 | 1 | ZYX | H7C3D3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C3D3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr7 | 143080274-143080288;M1;143080289-143080322;M1;143080323-143080355 | 1 | 8 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 2 | 750 | Unknown | 4.17124626812 |
1281.99430823,5807.84483542 |
0.000000 |
| 1502 | mutation | R.EVSQPDWM:PPPEVTLVLTK.E | T | M | 173 | 8 | 1 | PDIA4 | P13667 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Isomerase;-Polymorphism;-Redox-active-center;-Reference-proteome; | Intracellular | Atlas | chr7 | 148712054-148712091;M1;148712092-148712117 | 2 | 0 | 34 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs2290971). | 3 | 1 | 250 | Unknown | 5.8405637292 |
649.103366857,5807.84483542 |
0.000000 |
| 1503 | mutation | K.AQPPEAS:PQGLHDLGR.S | G | S | 726 | 7 | 1 | ESYT2 | A0FGR8 | 3D-structure;-Alternative-splicing;-Calcium;-Cell-membrane;Complete-proteome;-Endocytosis;-Endoplasmic-reticulum;Lipid-transport;-Lipid-binding;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 158534338-158534370;M1;158534371-158534392 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 226 | Lumenal | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1503 | mutation | K.AQPPEAS:PQGLHDLGR.S | G | S | 726 | 7 | 1 | ESYT2 | A0A087WXU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158534338-158534370;M1;158534371-158534392 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 226 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1503 | mutation | K.AQPPEAS:PQGLHDLGR.S | G | S | 689 | 7 | 1 | ESYT2 | H7BXI1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158534338-158534370;M1;158534371-158534392 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 226 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1504 | mutation | R.FQLG:NSGPNSTIK.M | S | G | 638 | 4 | 1 | ESYT2 | A0FGR8 | 3D-structure;-Alternative-splicing;-Calcium;-Cell-membrane;Complete-proteome;-Endocytosis;-Endoplasmic-reticulum;Lipid-transport;-Lipid-binding;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 158536234-158536266;M1;158536267-158536279 | 2 | 2 | 18 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs2305473). | 13 | 17 | 2865 | Lumenal | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1504 | mutation | R.FQLG:NSGPNSTIK.M | S | G | 638 | 4 | 1 | ESYT2 | A0A087WXU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158536234-158536266;M1;158536267-158536279 | 2 | 2 | 18 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 13 | 17 | 2865 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1504 | mutation | R.FQLG:NSGPNSTIK.M | S | G | 601 | 4 | 1 | ESYT2 | H7BXI1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158536234-158536266;M1;158536267-158536279 | 2 | 2 | 18 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 13 | 17 | 2865 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1505 | mutation | R.DEQHQCP:LGNLK.V | S | P | 612 | 7 | 1 | ESYT2 | A0FGR8 | 3D-structure;-Alternative-splicing;-Calcium;-Cell-membrane;Complete-proteome;-Endocytosis;-Endoplasmic-reticulum;Lipid-transport;-Lipid-binding;-Membrane;-Metal-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr7 | 158536324-158536344;M1;158536345-158536366 | 2 | 2 | 32 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 17 | 2903 | Lumenal | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1505 | mutation | R.DEQHQCP:LGNLK.V | S | P | 612 | 7 | 1 | ESYT2 | A0A087WXU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158536324-158536344;M1;158536345-158536366 | 2 | 2 | 32 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 17 | 2903 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1505 | mutation | R.DEQHQCP:LGNLK.V | S | P | 575 | 7 | 1 | ESYT2 | H7BXI1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr7 | 158536324-158536344;M1;158536345-158536366 | 2 | 2 | 32 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 17 | 2903 | Intra-Cellular-Peptide | 2.81958843149 |
2542.90177752,5807.84483542 |
0.000000 |
| 1506 | mutation | R.QGCTVTVSDLYAMN:FEPR.A | L | F | 47 | 15 | 1 | NQO2 | A2A2U4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A2U4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 3010344-3010389;M1;3010390-3010404 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 65 | 7575 | Unknown | 1.85577616903 |
3541.32457621,5807.84483542 |
1.925388 |
| 1506 | mutation | R.QGCTVTVSDLYAMN:FEPR.A | L | F | 47 | 15 | 1 | NQO2 | P16083 | 3D-structure;-Complete-proteome;-Cytoplasm;-FAD;-Flavoprotein;Metal-binding;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Zinc. | Intracellular | Atlas | chr6 | 3010344-3010389;M1;3010390-3010404 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | L->F(indbSNP:rs1143684). | 15 | 65 | 7575 | Unknown | 1.85577616903 |
3541.32457621,5807.84483542 |
1.925388 |
| 1506 | mutation | R.QGCTVTVSDLYAMN:FEPR.A | L | F | 47 | 15 | 1 | NQO2 | Q5TD05 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TD05,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 3010344-3010389;M1;3010390-3010404 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 65 | 7575 | Unknown | 1.85577616903 |
3541.32457621,5807.84483542 |
1.925388 |
| 1506 | mutation | R.QGCTVTVSDLYAMN:FEPR.A | L | F | 47 | 15 | 1 | NQO2 | Q5TD07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TD07,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 3010344-3010389;M1;3010390-3010404 | 1 | 2 | 7 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 65 | 7575 | Unknown | 1.85577616903 |
3541.32457621,5807.84483542 |
1.925388 |
| 1507 | mutation | K.LTAGEACAQGLVTEVFS:DSTFQK.E | P | S | 322 | 17 | 2 | ECI2 | O75521 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isomerase;-Mitochondrion;-Peroxisome;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr6 | 4117583-4117606;M1;4117607-4117658 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 2 | 444 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1507 | mutation | K.LTAGEACAQGLVTEVFS:DSTFQK.E | P | S | 292 | 17 | 2 | ECI2 | A0A0C4DGA2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGA2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4117583-4117606;M1;4117607-4117658 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 2 | 444 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 94 | 6 | 1 | ECI2 | C9JB63 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JB63,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 47 | 6 | 1 | ECI2 | F1LLU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F1LLU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 47 | 6 | 1 | ECI2 | O75521 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Isomerase;-Mitochondrion;-Peroxisome;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | M->I(indbSNP:rs3177253). | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 47 | 6 | 1 | ECI2 | F8W6J1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W6J1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 17 | 6 | 1 | ECI2 | A0A0C4DGA2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGA2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1508 | mutation | K.DFENSI:NQVK.L | M | I | 17 | 6 | 1 | ECI2 | F8WAW4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAW4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 4133839-4133854;M1;4133855-4133875 | 1 | 1 | 21 | 1 | 0 | 0 | 0 | 185 | 175 | -10 | Hydrophobic;4.500000 | -1.800000 | - | 42 | 27 | 4521 | Unknown | 2.89627389542 |
2404.09729327,5807.84483542 |
0.000000 |
| 1510 | mutation | R.AVPPNNSNAAEDDLPTVELQGL:VPR.G | V | L | 35 | 22 | 1 | F13A1 | P00488 | 3D-structure;-Acetylation;-Acyltransferase;-Blood-coagulation;Calcium;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Glycoprotein;-Hemostasis;-Metal-binding;Polymorphism;-Reference-proteome;-Secreted;-Transferase;-Zymogen. | Intracellular | Atlas | chr6 | 6318780-6318794;M1;6318795-6318861 | 1 | 0 | 29 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(higherspecificactivity; | 48 | 21 | 760 | Unknown | 4.05082288872 |
1376.77926355,5807.84483542 |
0.000000 |
| 1510 | mutation | R.AVPPNNSNAAEDDLPTVELQGL:VPR.G | V | L | 35 | 22 | 1 | F13A1 | Q9NQP5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:Q9NQP5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 6318780-6318794;M1;6318795-6318861 | 1 | 0 | 29 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 48 | 21 | 760 | Unknown | 4.05082288872 |
1376.77926355,5807.84483542 |
0.000000 |
| 1510 | mutation | R.AVPPNNSNAAEDDLPTVELQGL:VPR.G | V | L | 89 | 22 | 1 | F13A1 | A6PVK5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A6PVK5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 6318780-6318794;M1;6318795-6318861 | 1 | 0 | 29 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 48 | 21 | 760 | Unknown | 4.05082288872 |
1376.77926355,5807.84483542 |
0.000000 |
| 1510 | mutation | R.AVPPNNSNAAEDDLPTVELQGL:VPR.G | V | L | 60 | 22 | 1 | F13A1 | H0Y796 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H0Y796};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 6318780-6318794;M1;6318795-6318861 | 1 | 0 | 29 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 48 | 21 | 760 | Unknown | 4.05082288872 |
1376.77926355,5807.84483542 |
0.000000 |
| 1511 | mutation | K.ANSSATETI:KK.L | N | K | 1526 | 10 | 1 | DSP | P15924 | 3D-structure;-Alternative-splicing;-Cardiomyopathy;-Cell-junction;Cell-membrane;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Disease-mutation;-Epidermolysis-bullosa;-Lipoprotein;Membrane;-Palmoplantar-keratoderma;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr6 | 7580968-7581000;M1;7581001-7581007 | 1 | 46 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | N->K(indbSNP:rs28763966). | 3 | 2 | 180 | Unknown | 4.5002909166 |
1132.33129187,5807.84483542 |
0.000000 |
| 1512 | mutation | K.GLPSPYNMSSA:AGSR.S | P | A | 2823 | 12 | 1 | DSP | P15924 | 3D-structure;-Alternative-splicing;-Cardiomyopathy;-Cell-junction;Cell-membrane;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Disease-mutation;-Epidermolysis-bullosa;-Lipoprotein;Membrane;-Palmoplantar-keratoderma;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr6 | 7585925-7585961;M1;7585962-7585976 | 1 | 25 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 169 | Unknown | 4.5002909166 |
1132.33129187,5807.84483542 |
0.000000 |
| 1513 | mutation | K.AF:GAGADFVMLGGMFSGHTECAGEV:IER.N | F | I | 256 | 26 | 1 | GMPR | P36959 | 3D-structure;-Complete-proteome;-Metal-binding;-NADP;-Oxidoreductase;Polymorphism;-Potassium;-Purine-metabolism;-Reference-proteome. | Intracellular | Atlas | chr6 | 16286056-16286066;16290692-16290760;M1;16290761-16290772 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 210 | 175 | -35 | Hydrophobic;4.500000 | -1.800000 | F->I(indbSNP:rs1042391). | 1 | 51 | 9463 | Unknown | 3.2273363397 |
2028.85841337,5807.84483542 |
0.000000 |
| 1514 | mutation | K.SSFS:LGTIETK.S | N | S | 1049 | 4 | 1 | NUP153 | P49790 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-DNA-binding;-Glycoprotein;Host-virus-interaction;-Isopeptide-bond;-Membrane;-Metal-binding;mRNA-transport;-Nuclear-pore-complex;-Nucleus;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat;Translocation;-Transport;-Ubl-conjugation;Viral-penetration-into-host-nucleus;-Virus-entry-into-host-cell;-Zinc; | Intracellular | Atlas | chr6 | 17629258-17629283;M1;17629284-17629297 | 1 | 11 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 159 | Unknown | 2.27632815266 |
3191.35255886,5807.84483542 |
0.000000 |
| 1515 | mutation | K.KLPYG:ELLFDK.S | S | G | 221 | 5 | 1 | DCDC2 | Q9UHG0 | 3D-structure;-Alternative-splicing;-Cell-projection;-Ciliopathy;Cilium-biogenesis/degradation;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Deafness;-Disease-mutation;-Nephronophthisis;Neurogenesis;-Non-syndromic-deafness;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr6 | 24291179-24291202;M1;24291203-24291218 | 2 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs2274305). | 12 | 53 | 3381 | Unknown | -0.101258135247 |
5948.36104588,5807.84483542 |
0.000000 |
| 1516 | mutation | R.VYGDII:YTPAK.D | H | Y | 152 | 7 | 1 | ALDH5A1 | C9J8Q5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J8Q5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 24503568-24503589;M1;24503590-24503607 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 33 | 2420 | Unknown | 3.44169258263 |
1860.13219234,5807.84483542 |
1.968964 |
| 1516 | mutation | R.VYGDII:YTPAK.D | H | Y | 180 | 7 | 1 | ALDH5A1 | P51649 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Mitochondrion;-NAD;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr6 | 24503568-24503589;M1;24503590-24503607 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | H->Y(83%ofactivity; | 3 | 33 | 2420 | Unknown | 3.44169258263 |
1860.13219234,5807.84483542 |
1.968964 |
| 1517 | mutation | K.:KLGNDAVSQDSSSPALS:SVER.S | G | S | 1202 | 18 | 1 | LRRC16A | Q5VZK9 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Cell-projection;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Isopeptide-bond;-Leucine-rich-repeat;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr6 | 25600971-25600974;25605039-25605090;M1;25605091-25605105 | 2 | 3 | 7 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 60 | 3257 | Unknown | 1.30284700456 |
4392.84625669,5807.84483542 |
2.373788 |
| 1517 | mutation | K.:KLGNDAVSQDSSSPALS:SVER.S | G | S | 802 | 18 | 1 | LRRC16A | A0A0U1RQQ1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQQ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 25600971-25600974;25605039-25605090;M1;25605091-25605105 | 2 | 3 | 7 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 60 | 3257 | Unknown | 1.30284700456 |
4392.84625669,5807.84483542 |
2.373788 |
| 1518 | mutation | K.LGNDAVSQDSSSPALS:SVER.S | G | S | 1202 | 17 | 1 | LRRC16A | Q5VZK9 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Cell-projection;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Isopeptide-bond;-Leucine-rich-repeat;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr6 | 25605039-25605090;M1;25605091-25605105 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 76 | 4000 | Unknown | 1.30284700456 |
4392.84625669,5807.84483542 |
2.373788 |
| 1518 | mutation | K.LGNDAVSQDSSSPALS:SVER.S | G | S | 802 | 17 | 1 | LRRC16A | A0A0U1RQQ1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQQ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 25605039-25605090;M1;25605091-25605105 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 76 | 4000 | Unknown | 1.30284700456 |
4392.84625669,5807.84483542 |
2.373788 |
| 1519 | mutation | K.AF:SVETKPGASK.V | S | F | 115 | 2 | 1 | HIST1H1A | Q02539 | Acetylation;-Chromosome;-Citrullination;-Complete-proteome;DNA-binding;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr6 | 26017582-26017616;M1;26017617-26017624 | 2 | 4 | 6 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | S->F(indbSNP:rs34541321). | 1 | 1 | 4 | Unknown | 2.31026919833 |
2963.72833567,5807.84483542 |
1.000000 |
| 1521 | mutation | Y.LT:AVLEYLTAEILELAGNAAR.D | A | T | 53 | 2 | 1 | HIST1H2AB | P04908 | 3D-structure;-Acetylation;-Chromosome;-Citrullination;Complete-proteome;-DNA-binding;-Isopeptide-bond;-Methylation;Nucleosome-core;-Nucleus;-Phosphoprotein;-Reference-proteome; | Intracellular | Atlas | chr6 | 26033577-26033639;M1;26033640-26033646 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 1 | Unknown | - |
- |
0.000000 |
| 1522 | mutation | G.ISF:KAMGIMNSFVNDIFER.I | S | F | 57 | 3 | 1 | HIST1H2BB | P33778 | 3D-structure;-Acetylation;-Chromosome;-Complete-proteome;-DNA-binding;Glycoprotein;-Isopeptide-bond;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 26043663-26043715;M1;26043716-26043726 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 9 | 1 | 1 | Unknown | 0.941742811306 |
4509.0,5807.84483542 |
0.000000 |
| 1524 | mutation | G.AGAPL:YLAAVLEYLTAEILELAGNAAR.D | V | L | 50 | 5 | 2 | HIST1H2AD | P20671 | Acetylation;-Chromosome;-Citrullination;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 26199252-26199323;M1;26199324-26199339 | 1 | 0 | 8 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 112 | Unknown | - |
- |
0.000000 |
| 1526 | mutation | K.GENIPAVEAPVVADGVGLYEVAASVIM:K.G | R | K | 169 | 28 | 1 | BTN3A2 | E9PRR1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PRR1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 26370662-26370747;M1;26370748-26370752 | 1 | 1 | 5 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 16 | 1478 | Unknown | -0.0661791874131 |
6033.0879766,5807.84483542 |
1.584963 |
| 1526 | mutation | K.GENIPAVEAPVVADGVGLYEVAASVIM:K.G | R | K | 211 | 28 | 1 | BTN3A2 | P78410 | 3D-structure;-Adaptive-immunity;-Alternative-splicing;-Cell-membrane;Coiled-coil;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Immunity;-Immunoglobulin-domain;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr6 | 26370662-26370747;M1;26370748-26370752 | 1 | 1 | 5 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | R->K(indbSNP:rs35183513). | 1 | 16 | 1478 | Targetable | -0.0661791874131 |
6033.0879766,5807.84483542 |
1.584963 |
| 1527 | mutation | H.PG:TGISSKAMGIMNSFVNDIFER.I | D | G | 52 | 2 | 1 | HIST1H2BK | O60814 | 3D-structure;-Acetylation;-Antibiotic;-Antimicrobial;-Chromosome;Complete-proteome;-Direct-protein-sequencing;-DNA-binding;Glycoprotein;-Isopeptide-bond;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 27114355-27114422;M1;27114423-27114430 | 1 | 0 | 8 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 21 | 1 | 250 | Unknown | - |
- |
0.000000 |
| 1531 | mutation | A.:RGIMNSFVNDIFER.I | M | R | 60 | 1 | 1 | HIST1H2BN | Q99877 | Acetylation;-Chromosome;-Complete-proteome;-Direct-protein-sequencing;DNA-binding;-Glycoprotein;-Isopeptide-bond;-Methylation;Nucleosome-core;-Nucleus;-Phosphoprotein;-Reference-proteome; | Intracellular | Atlas | chr6 | 27806613-27806617;M1;27806618-27806661 | 1 | 1 | 357 | 1 | 0 | 1 | 1 | 185 | 225 | 40 | -4.500000 | Hydrophilic;3.000000 | - | 114 | 1 | 10 | Unknown | 1.56539370947 |
5379.5460374,5807.84483542 |
0.000000 |
| 1531 | mutation | A.:RGIMNSFVNDIFER.I | M | R | 60 | 1 | 1 | HIST1H2BN | U3KQK0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Nucleosome-core-{ECO:0000256|RuleBase:RU000451,Proteomics-identification-{ECO:0000213|MaxQB:U3KQK0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 27806613-27806617;M1;27806618-27806661 | 1 | 1 | 357 | 1 | 0 | 1 | 1 | 185 | 225 | 40 | -4.500000 | Hydrophilic;3.000000 | - | 114 | 1 | 10 | Unknown | 1.56539370947 |
5379.5460374,5807.84483542 |
0.000000 |
| 1541 | mutation | R.SGPFGQIFRPD:DFVF:GQSGAGNNWAK.G | N | D | 17 | 12 | 1 | TUBB | Q5ST81 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5ST81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 30690756-30690792;M1;30690793-30690805;30691116-30691151 | 3 | 25 | 539 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 111 | 1 | 159 | Unknown | 7.3956680041 |
464.696517092,5807.84483542 |
0.000000 |
| 1541 | mutation | R.SGPFGQIFRPD:DFVF:GQSGAGNNWAK.G | N | D | 89 | 12 | 1 | TUBB | P07437 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-GTP-binding;Isopeptide-bond;-Methylation;-Microtubule;-Nucleotide-binding;Phosphoprotein;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 30690756-30690792;M1;30690793-30690805;30691116-30691151 | 3 | 25 | 539 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 111 | 1 | 159 | Unknown | 7.3956680041 |
464.696517092,5807.84483542 |
0.000000 |
| 1541 | mutation | R.SGPFGQIFRPD:DFVF:GQSGAGNNWAK.G | N | D | 71 | 12 | 1 | TUBB | Q5JP53 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JP53,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 30690756-30690792;M1;30690793-30690805;30691116-30691151 | 3 | 25 | 539 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 111 | 1 | 159 | Unknown | 7.3956680041 |
464.696517092,5807.84483542 |
0.000000 |
| 1552 | mutation | K.VLDNYLTSPR:PEEVDETSAEDEGVSQR.K | L | R | 148 | 10 | 1 | CLIC1 | O00299 | 3D-structure;-Acetylation;-Cell-membrane;-Chloride;-Chloride-channel;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disulfide-bond;-Glutathionylation;-Ion-channel;-Ion-transport;Membrane;-Nucleus;-Phosphoprotein;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport;-Voltage-gated-channel. | Membrane-Bound | Atlas | chr6 | 31700059-31700114;M1;31700115-31700146 | 1 | 1 | 2 | 1 | 0 | 1 | 1 | 170 | 225 | 55 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 7 | 1746 | Targetable-Peptide | 5.88166730596 |
653.604613267,5807.84483542 |
0.000000 |
| 1553 | mutation | A.ALNPESNP:AGLDIFAK.F | T | P | 105 | 8 | 1 | CLIC1 | O00299 | 3D-structure;-Acetylation;-Cell-membrane;-Chloride;-Chloride-channel;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disulfide-bond;-Glutathionylation;-Ion-channel;-Ion-transport;Membrane;-Nucleus;-Phosphoprotein;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport;-Voltage-gated-channel. | Membrane-Bound | Atlas | chr6 | 31701382-31701411;M1;31701412-31701436 | 2 | 0 | 24 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 8 | 2 | 498 | Targetable-Peptide | 5.88166730596 |
653.604613267,5807.84483542 |
0.000000 |
| 1554 | mutation | R.GALINVPS:PFL:GLPR.F | P | S | 626 | 8 | 1 | VARS | P26640 | Acetylation;-Alternative-splicing;-Aminoacyl-tRNA-synthetase;ATP-binding;-Complete-proteome;-Direct-protein-sequencing;-Ligase;Nucleotide-binding;-Phosphoprotein;-Polymorphism;Protein-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr6 | 31750395-31750410;31750497-31750508;M1;31750509-31750533 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs11531). | 3 | 1 | 245 | Unknown | 3.52199446883 |
1840.77927406,5807.84483542 |
2.321928 |
| 1555 | mutation | T.TPWSLA:WPQGSCSLEGVEIK.G | Q | W | 32 | 7 | 2 | CFB | A0A0G2JH38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31914157-31914178;M1;31914179-31914223 | 2 | 5 | 7 | 1 | 0 | 0 | 0 | 180 | 255 | 75 | -0.900000 | -3.400000 | - | 1 | 16 | 3443 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1555 | mutation | T.TPWSLA:WPQGSCSLEGVEIK.G | R | W | 32 | 7 | 2 | CFB | C9JRT3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31914157-31914178;M1;31914179-31914223 | 2 | 5 | 7 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | - | 1 | 16 | 3443 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1555 | mutation | T.TPWSLA:WPQGSCSLEGVEIK.G | R | W | 32 | 7 | 2 | CFB | P00751 | 3D-structure;-Alternative-splicing;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycation;-Glycoprotein;-Hemolytic-uremic-syndrome;Hydrolase;-Immunity;-Innate-immunity;-Polymorphism;-Protease;Reference-proteome;-Repeat;-Secreted;-Serine-protease;-Signal;-Sushi; | Intracellular | Atlas | chr6 | 31914157-31914178;M1;31914179-31914223 | 2 | 5 | 7 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | R->Q(inalleleS;dbSNP:rs641153). R->W(indbSNP:rs12614). |
1 | 16 | 3443 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1556 | mutation | K.:AAGIPEFYDYDVALIK.L | E | A | 107 | 1 | 2 | CFB | H7C5H1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00524913};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 31918463-31918467;M1;31918468-31918517 | 1 | 13 | 14 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 22 | 2 | 500 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1556 | mutation | K.:AAGIPEFYDYDVALIK.L | E | A | 566 | 1 | 2 | CFB | A0A0G2JH38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00597225};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31918463-31918467;M1;31918468-31918517 | 1 | 13 | 14 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 22 | 2 | 500 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1556 | mutation | K.:AAGIPEFYDYDVALIK.L | E | A | 566 | 1 | 2 | CFB | P00751 | 3D-structure;-Alternative-splicing;Cleavage-on-pair-of-basic-residues;-Complement-alternate-pathway;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycation;-Glycoprotein;-Hemolytic-uremic-syndrome;Hydrolase;-Immunity;-Innate-immunity;-Polymorphism;-Protease;Reference-proteome;-Repeat;-Secreted;-Serine-protease;-Signal;-Sushi; | Intracellular | Atlas | chr6 | 31918463-31918467;M1;31918468-31918517 | 1 | 13 | 14 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 22 | 2 | 500 | Unknown | 4.82262695287 |
942.537660573,5807.84483542 |
0.000000 |
| 1557 | mutation | R.TLGYVDE:VGTVK.L | A | V | 1071 | 8 | 1 | SKIV2L | Q15477 | ATP-binding;-Complete-proteome;-Cytoplasm;-Disease-mutation;-Helicase;Hydrolase;-Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr6 | 31936653-31936678;M1;31936679-31936695 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs449643). | 1 | 12 | 1313 | Unknown | 1.79194050545 |
3787.21840495,5807.84483542 |
2.652460 |
| 1557 | mutation | R.TLGYVDE:VGTVK.L | A | V | 70 | 8 | 1 | SKIV2L | H7C4L3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4L3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 31936653-31936678;M1;31936679-31936695 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 12 | 1313 | Unknown | 1.79194050545 |
3787.21840495,5807.84483542 |
2.652460 |
| 1558 | mutation | K.VVA:QGSFEFPVGDAVSK.V | R | Q | 916 | 4 | 1 | C4A | A0A0G2JPR0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00507203};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0G2JPR0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 31962415-31962428;M1;31962429-31962472 | 2 | 11 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 205 | Unknown | -1.22484764659 |
7150.64782576,5807.84483542 |
0.000000 |
| 1558 | mutation | K.VVA:QGSFEFPVGDAVSK.V | R | Q | 916 | 4 | 1 | C4A | P0C0L4 | 3D-structure;-Alternative-splicing;-Blood-group-antigen;Cell-junction;-Cell-projection;-Cleavage-on-pair-of-basic-residues;Complement-pathway;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Immunity;Inflammatory-response;-Innate-immunity;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Sulfation;-Synapse;Systemic-lupus-erythematosus;-Thioester-bond. | Intracellular | Atlas | chr6 | 31962415-31962428;M1;31962429-31962472 | 2 | 11 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 205 | Unknown | -1.22484764659 |
7150.64782576,5807.84483542 |
0.000000 |
| 1559 | mutation | K.ELPPHLGELTL:AEETSSSLR.L | V | L | 3457 | 11 | 1 | TNXB | E7EPZ9 | - | Intracellular | Atlas | chr6 | 32014156-32014188;M1;32014189-32014222 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 4 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1559 | mutation | K.ELPPHLGELTL:AEETSSSLR.L | V | L | 1175 | 11 | 1 | TNXB | A0A087X0I0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00425769};Proteomics-identification-{ECO:0000213|MaxQB:A0A087X0I0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 32014156-32014188;M1;32014189-32014222 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 4 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1559 | mutation | K.ELPPHLGELTL:AEETSSSLR.L | V | L | 3455 | 11 | 1 | TNXB | P22105 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 32014156-32014188;M1;32014189-32014222 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 4 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1561 | mutation | R.CVDGH:CVCNPGFTGEDCGSR.R | R | H | 511 | 5 | 1 | TNXB | A0A087WWA5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 32064048-32064097;M1;32064098-32064114 | 1 | 13 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 5 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1561 | mutation | R.CVDGH:CVCNPGFTGEDCGSR.R | R | H | 511 | 5 | 1 | TNXB | E7EPZ9 | - | Intracellular | Atlas | chr6 | 32064048-32064097;M1;32064098-32064114 | 1 | 13 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 5 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1561 | mutation | R.CVDGH:CVCNPGFTGEDCGSR.R | R | H | 511 | 5 | 1 | TNXB | C9J7W4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9J7W4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 32064048-32064097;M1;32064098-32064114 | 1 | 13 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 5 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1561 | mutation | R.CVDGH:CVCNPGFTGEDCGSR.R | R | H | 511 | 5 | 1 | TNXB | P22105 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Ehlers-Danlos-syndrome;Extracellular-matrix;-Glycoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 32064048-32064097;M1;32064098-32064114 | 1 | 13 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs204896). | 3 | 1 | 5 | Unknown | -0.261736265237 |
5771.18441967,5807.84483542 |
0.000000 |
| 1567 | mutation | R.QPNLPSPGTLAPTTLQGI:VK.F | V | I | 467 | 18 | 2 | TAP2 | X5CMH5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:X5CMH5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr6 | 32798445-32798456;M1;32798457-32798511 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 167 | Targetable-Peptide | 2.3363551884 |
3012.64511895,5807.84483542 |
0 |
| 1567 | mutation | R.QPNLPSPGTLAPTTLQGI:VK.F | V | I | 467 | 18 | 2 | TAP2 | A0A087WYD6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WYD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr6 | 32798445-32798456;M1;32798457-32798511 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 167 | Targetable-Peptide | 2.3363551884 |
3012.64511895,5807.84483542 |
0 |
| 1567 | mutation | R.QPNLPSPGTLAPTTLQGI:VK.F | V | I | 467 | 18 | 2 | TAP2 | A0A0G2JLV0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JLV0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr6 | 32798445-32798456;M1;32798457-32798511 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 167 | Targetable-Peptide | 2.3363551884 |
3012.64511895,5807.84483542 |
0 |
| 1567 | mutation | R.QPNLPSPGTLAPTTLQGI:VK.F | V | I | 467 | 18 | 2 | TAP2 | Q03519 | Adaptive-immunity;-Alternative-splicing;-ATP-binding;Complete-proteome;-Endoplasmic-reticulum;-Host-virus-interaction;Immunity;-Membrane;-Nucleotide-binding;-Peptide-transport;Polymorphism;-Protein-transport;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr6 | 32798445-32798456;M1;32798457-32798511 | 1 | 4 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(inalleleTAP2*01Fandallele | 1 | 1 | 167 | Lumenal | 2.3363551884 |
3012.64511895,5807.84483542 |
0 |
| 1574 | mutation | K.MDCVSG:VSVPEVLE:EDRELDSTER.A | L | V | 2436 | 7 | 1 | ITPR3 | Q14573 | Calcium;-Calcium-channel;-Calcium-transport;-Complete-proteome;Endoplasmic-reticulum;-Ion-channel;-Ion-transport;Ligand-gated-ion-channel;-Membrane;-Phosphoprotein;-Polymorphism;Receptor;-Reference-proteome;-Repeat;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr6 | 33659450-33659471;M1;33659472-33659496;33659577-33659609 | 1 | 2 | 22 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs2229642). | 50 | 58 | 9654 | Targetable | 1.06645621825 |
4632.74050897,5807.84483542 |
0.000000 |
| 1575 | mutation | R.GLNEDELLDFAALTEGH:PLDVR.F | L | H | 239 | 17 | 1 | MOCS1 | Q9NZB8 | 4Fe-4S;-Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-GTP-binding;-Iron;-Iron-sulfur;-Lyase;Metal-binding;-Molybdenum-cofactor-biosynthesis;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr6 | 39881082-39881101;M1;39881102-39881154 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 170 | 195 | 25 | -3.200000 | -0.500000 | - | 6 | 10 | 880 | Unknown | -0.743226143878 |
6604.86395897,5807.84483542 |
0.000000 |
| 1576 | mutation | K.ENSHFFVATFA:R.E | V | A | 65 | 11 | 1 | TBCC | Q15814 | 3D-structure;-Acetylation;-Chaperone;-Complete-proteome;-Cytoplasm;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr6 | 42713610-42713617;M1;42713618-42713652 | 2 | 9 | 54 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs2234026). | 18 | 67 | 9815 | Unknown | 0.898770643488 |
4618.99987378,5807.84483542 |
0.000000 |
| 1577 | mutation | R.AAAPCIIFFDELDSLV:PSR.G | A | V | 809 | 16 | 1 | PEX6 | Q13608 | Alternative-splicing;-Amelogenesis-imperfecta;-ATP-binding;Complete-proteome;-Cytoplasm;-Deafness;-Disease-mutation;-Membrane;Nucleotide-binding;-Peroxisome;-Peroxisome-biogenesis;Peroxisome-biogenesis-disorder;-Polymorphism;-Reference-proteome;Repeat;-Zellweger-syndrome. | Intracellular | Atlas | chr6 | 42933450-42933463;M1;42933464-42933513 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs35830695). | 3 | 7 | 1102 | Unknown | -0.677353769861 |
6563.45191669,5807.84483542 |
1.000000 |
| 1578 | mutation | K.IEEFLEETLTH:EK:.Y | P | H | 257 | 11 | 1 | CLIC5 | Q9NZA1 | Alternative-splicing;-Chloride;-Chloride-channel;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Deafness;-Golgi-apparatus;-Hearing;Ion-channel;-Ion-transport;-Membrane;-Non-syndromic-deafness;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix;Transport;-Voltage-gated-channel. | Membrane-Bound | Atlas | chr6 | 45909386-45909390;45916992-45916998;M1;45916999-45917033 | 2 | 2 | 5 | 1 | 0 | 0 | 0 | 145 | 195 | 50 | -3.200000 | -0.500000 | P->H(indbSNP:rs35822882). | 12 | 3 | 178 | Targetable-Peptide | 2.77952550668 |
2455.79956274,5807.84483542 |
0.000000 |
| 1579 | mutation | R.EVAQQAVDADVHAVGV:STLAAGHK.T | I | V | 671 | 16 | 1 | MUT | P22033 | 3D-structure;-Acetylation;-Cobalamin;-Cobalt;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Isomerase;-Metal-binding;Mitochondrion;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr6 | 49403252-49403281;M1;49403282-49403330 | 2 | 0 | 50 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs8589). | 26 | 58 | 4988 | Unknown | 2.22696961448 |
3217.8637613,5807.84483542 |
1.951783 |
| 1580 | mutation | R.DQALAEH:CLAALTECAASGDGNILALAVDASR.A | R | H | 532 | 7 | 1 | MUT | P22033 | 3D-structure;-Acetylation;-Cobalamin;-Cobalt;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Isomerase;-Metal-binding;Mitochondrion;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr6 | 49412353-49412432;M1;49412433-49412455 | 2 | 0 | 27 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1141321). | 30 | 40 | 3189 | Unknown | 2.22696961448 |
3217.8637613,5807.84483542 |
1.792481 |
| 1581 | mutation | Y.IEGIADLGEMILLLPFT:QPEEQDAK.L | S | T | 112 | 17 | 1 | GSTA2 | P09210 | 3D-structure;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr6 | 52617702-52617730;M1;52617731-52617783 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | S->T(indbSNP:rs2180314). | 3 | 20 | 418 | Unknown | 1.94729001414 |
4575.81999135,5807.84483542 |
1.000000 |
| 1582 | mutation | R.WLLAAAGL:E:FEEK.F | V | L | 28 | 8 | 1 | GSTA2 | P09210 | 3D-structure;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr6 | 52621092-52621107;52622658-52622663;M1;52622664-52622688 | 1 | 1 | 4 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 7 | 229 | Unknown | 1.94729001414 |
4575.81999135,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 3092 | 2 | 1 | DST | F6QMI7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6QMI7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 3052 | 2 | 1 | DST | E7ERU0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ERU0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 5138 | 2 | 1 | DST | Q03001 | 3D-structure;-Actin-binding;-Alternative-promoter-usage;Alternative-splicing;-Calcium;-Cell-adhesion;-Cell-junction;Cell-membrane;-Cell-projection;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Endoplasmic-reticulum;-Epidermolysis-bullosa;Intermediate-filament;-Isopeptide-bond;-Lipoprotein;-Membrane;Metal-binding;-Microtubule;-Muscle-protein;-Neuropathy;-Nucleus;Palmitate;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;SH3-domain;-Transmembrane;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs4715631). | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 3230 | 2 | 1 | DST | E9PEB9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PEB9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 3052 | 2 | 1 | DST | E9PHM6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PHM6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1583 | mutation | K.GA:SDVLLQVETIAQEHSTLSQQVDEK.C | T | A | 5138 | 2 | 1 | DST | F8W9J4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W9J4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 56417467-56417544;M1;56417545-56417551 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 46 | 248 | Unknown | -2.13598063863 |
7880.29688364,5807.84483542 |
0.000000 |
| 1584 | mutation | K.ENH:LSQFLEGEILSASK.M | P | H | 261 | 3 | 1 | MB21D1 | Q8N884 | 3D-structure;-Acetylation;-Alternative-splicing;-Antiviral-defense;ATP-binding;-Complete-proteome;-Cytoplasm;-DNA-binding;-GTP-binding;Immunity;-Innate-immunity;-Isopeptide-bond;-Magnesium;-Metal-binding;Nucleotide-binding;-Nucleotidyltransferase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transferase;-Zinc. | Intracellular | Atlas | chr6 | 74155299-74155345;M1;74155346-74155356 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 145 | 195 | 50 | -3.200000 | -0.500000 | P->H(indbSNP:rs610913). | 9 | 62 | 2106 | Unknown | -0.848480238058 |
6625.22142275,5807.84483542 |
1.862899 |
| 1585 | mutation | G.DAAIVDMVPGE:PMCVESFSDYPPLG:R.F | K | E | 387 | 11 | 1 | EEF1A1 | A0A087WVQ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WVQ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 74227649-74227657;74227752-74227794;M1;74227795-74227828 | 1 | 5 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0.000000 |
| 1585 | mutation | G.DAAIVDMVPGE:PMCVESFSDYPPLG:R.F | K | E | 408 | 11 | 1 | EEF1A1 | P68104 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Elongation-factor;-GTP-binding;Methylation;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Protein-biosynthesis;-Reference-proteome;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 74227649-74227657;74227752-74227794;M1;74227795-74227828 | 1 | 5 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 6.70465154853 |
554.220871322,5807.84483542 |
0.000000 |
| 1586 | mutation | R.LLPETPSDPFAV:WQITDR.D | I | V | 2596 | 12 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75823348-75823371;M1;75823372-75823408 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 3 | 640 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
2.877444 |
| 1586 | mutation | R.LLPETPSDPFAV:WQITDR.D | I | V | 150 | 12 | 1 | COL12A1 | H0Y991 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y991,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 75823348-75823371;M1;75823372-75823408 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 3 | 640 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
2.877444 |
| 1586 | mutation | R.LLPETPSDPFAV:WQITDR.D | I | V | 2596 | 12 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75823348-75823371;M1;75823372-75823408 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs35710072). | 3 | 3 | 640 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
2.877444 |
| 1586 | mutation | R.LLPETPSDPFAV:WQITDR.D | I | V | 234 | 12 | 1 | COL12A1 | H0Y5N9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y5N9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 75823348-75823371;M1;75823372-75823408 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 3 | 640 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
2.877444 |
| 1586 | mutation | R.LLPETPSDPFAV:WQITDR.D | I | V | 1407 | 12 | 1 | COL12A1 | A0A087X0A8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X0A8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75823348-75823371;M1;75823372-75823408 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 3 | 640 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
2.877444 |
| 1587 | mutation | R.GSETSHCFTGLSPDTDYGVTVFVQTL:NLEGPGVSVK.E | P | L | 2277 | 26 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75833670-75833704;M1;75833705-75833784 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 1 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0.000000 |
| 1587 | mutation | R.GSETSHCFTGLSPDTDYGVTVFVQTL:NLEGPGVSVK.E | P | L | 2277 | 26 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75833670-75833704;M1;75833705-75833784 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 1 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0.000000 |
| 1587 | mutation | R.GSETSHCFTGLSPDTDYGVTVFVQTL:NLEGPGVSVK.E | P | L | 1088 | 26 | 1 | COL12A1 | A0A087X0A8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X0A8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75833670-75833704;M1;75833705-75833784 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 1 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0.000000 |
| 1588 | mutation | R.ISVFATYSSGEGEPLTR:.D | G | R | 989 | 17 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75875235-75875240;M1;75875241-75875292 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 22 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 1588 | mutation | R.ISVFATYSSGEGEPLTR:.D | G | R | 989 | 17 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75875235-75875240;M1;75875241-75875292 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 22 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0 |
| 1589 | mutation | K.GMTSSEPISIT:EK.T | M | T | 419 | 11 | 1 | COL12A1 | D6RGG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 75893591-75893601;M1;75893602-75893636 | 1 | 18 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 6 | 1 | 3 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0.000000 |
| 1589 | mutation | K.GMTSSEPISIT:EK.T | M | T | 419 | 11 | 1 | COL12A1 | Q99715 | Alternative-splicing;-Cell-adhesion;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Hydroxylation;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 75893591-75893601;M1;75893602-75893636 | 1 | 18 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 6 | 1 | 3 | Unknown | 4.56726277046 |
1088.9374674,5807.84483542 |
0.000000 |
| 1590 | mutation | R.HTDE:TFWNHVSMCILNGGGIR.S | M | T | 144 | 5 | 1 | NT5E | H0Y7R7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0Y7R7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 86199226-86199242;M1;86199243-86199295 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 1 | 8 | 375 | Unknown | 2.68910538932 |
2577.21274336,5807.84483542 |
1.000000 |
| 1590 | mutation | R.HTDE:TFWNHVSMCILNGGGIR.S | M | T | 75 | 5 | 1 | NT5E | H0Y3X5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0Y3X5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 86199226-86199242;M1;86199243-86199295 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 1 | 8 | 375 | Unknown | 2.68910538932 |
2577.21274336,5807.84483542 |
1.000000 |
| 1590 | mutation | R.HTDE:TFWNHVSMCILNGGGIR.S | M | T | 379 | 5 | 1 | NT5E | P21589 | 3D-structure;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-GPI-anchor;-Hydrolase;-Lipoprotein;-Membrane;Metal-binding;-Nucleotide-binding;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr6 | 86199226-86199242;M1;86199243-86199295 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->T(indbSNP:rs2229524). | 1 | 8 | 375 | Unknown | 2.68910538932 |
2577.21274336,5807.84483542 |
1.000000 |
| 1591 | mutation | R.LVASELHTSLY:SSMVGADR.L | H | Y | 3423 | 11 | 1 | MDN1 | Q9NU22 | Acetylation;-ATP-binding;-Chaperone;-Complete-proteome;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr6 | 90402452-90402481;M1;90402482-90402515 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | H->Y(indbSNP:rs9294445). | 3 | 49 | 639 | Unknown | -0.951157600272 |
6874.05149118,5807.84483542 |
1.725919 |
| 1592 | mutation | R.EDLIQIIN:HNLRPGLCLGR.I | S | N | 1559 | 8 | 1 | MDN1 | Q9NU22 | Acetylation;-ATP-binding;-Chaperone;-Complete-proteome;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr6 | 90448054-90448091;M1;90448092-90448117 | 2 | 0 | 14 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs4140446). | 33 | 61 | 415 | Unknown | -0.951157600272 |
6874.05149118,5807.84483542 |
1.584963 |
| 1593 | mutation | R.TSIEC:LPELIHACGGK.D | S | C | 1995 | 5 | 1 | ASCC3 | Q8N3C0 | Acetylation;-Alternative-splicing;-ATP-binding;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-DNA-damage;-DNA-repair;Helicase;-Hydrolase;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Transcription; | Intracellular | Atlas | chr6 | 100964109-100964146;M1;100964147-100964163 | 2 | 0 | 16 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | S->C(indbSNP:rs240780). | 3 | 54 | 2831 | Unknown | 0.648875811187 |
5194.63858443,5807.84483542 |
1.909636 |
| 1594 | mutation | R.IISHFSQDDF:TALVQMTEK.E | L | F | 146 | 10 | 1 | ASCC3 | E5RFZ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RFZ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 101296356-101296388;M1;101296389-101296419 | 1 | 3 | 8 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 23 | 40 | 349 | Unknown | 0.648875811187 |
5194.63858443,5807.84483542 |
2.296125 |
| 1594 | mutation | R.IISHFSQDDF:TALVQMTEK.E | L | F | 146 | 10 | 1 | ASCC3 | Q8N3C0 | Acetylation;-Alternative-splicing;-ATP-binding;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-DNA-damage;-DNA-repair;Helicase;-Hydrolase;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Transcription; | Intracellular | Atlas | chr6 | 101296356-101296388;M1;101296389-101296419 | 1 | 3 | 8 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | L->F(indbSNP:rs9390698). | 23 | 40 | 349 | Unknown | 0.648875811187 |
5194.63858443,5807.84483542 |
2.296125 |
| 1595 | mutation | R.SNFLVV:CYLHDVK.N | L | V | 351 | 6 | 1 | PREP | P48147 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Hydrolase;-Polymorphism;-Protease;Reference-proteome;-Serine-protease. | Intracellular | Atlas | chr6 | 105776839-105776865;M1;105776866-105776884 | 2 | 2 | 37 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs12192054). | 3 | 20 | 2133 | Unknown | 3.65559434134 |
1735.52386674,5807.84483542 |
2.745927 |
| 1596 | mutation | K.LSDLQEALDQALNH:VR.D | Y | H | 491 | 14 | 1 | LAMA4 | A0A0A0MTC7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00112232};Laminin-EGF-like-domain-{ECO:0000256|SAAS:SAAS00580772};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MTC7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 112493860-112493871;M1;112493872-112493914 | 2 | 1 | 151 | 1 | 0 | 0 | 0 | 230 | 195 | -35 | -3.200000 | -0.500000 | - | 69 | 54 | 1498 | Unknown | - |
- |
2.131762 |
| 1596 | mutation | K.LSDLQEALDQALNH:VR.D | Y | H | 498 | 14 | 1 | LAMA4 | Q16363 | Alternative-splicing;-Basement-membrane;-Cardiomyopathy;Cell-adhesion;-Coiled-coil;-Complete-proteome;-Disease-mutation;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr6 | 112493860-112493871;M1;112493872-112493914 | 2 | 1 | 151 | 1 | 0 | 0 | 0 | 230 | 195 | -35 | -3.200000 | -0.500000 | Y->H(indbSNP:rs1050348). | 69 | 54 | 1498 | Unknown | - |
- |
2.131762 |
| 1596 | mutation | K.LSDLQEALDQALNH:VR.D | Y | H | 498 | 14 | 1 | LAMA4 | A0A0A0MQS9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00112232};Laminin-EGF-like-domain-{ECO:0000256|SAAS:SAAS00580772};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQS9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 112493860-112493871;M1;112493872-112493914 | 2 | 1 | 151 | 1 | 0 | 0 | 0 | 230 | 195 | -35 | -3.200000 | -0.500000 | - | 69 | 54 | 1498 | Unknown | - |
- |
2.131762 |
| 1597 | mutation | R.SAGLAPDCEASATAETTVSSVGTCEAA:AK.S | G | A | 36 | 28 | 2 | HINT3 | Q9NQE9 | Acetylation;-Complete-proteome;-Cytoplasm;-Hydrolase;Nucleotide-binding;-Nucleus;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr6 | 126278144-126278229;M1;126278230-126278237 | 2 | 2 | 8 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(2.5-foldincreaseinaffinityfor | 3 | 48 | 3902 | Unknown | 2.28726918664 |
3009.91453922,5807.84483542 |
3.461984 |
| 1598 | mutation | K.GLFCD:FGSPANR.K | H | D | 83 | 5 | 1 | CTGF | P29279 | Alternative-splicing;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-DNA-synthesis;-Extracellular-matrix;-Glycoprotein;Heparin-binding;-Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr6 | 132271925-132271951;M1;132271952-132271967 | 2 | 1 | 7 | 1 | 0 | -1 | -1 | 195 | 150 | -45 | -3.500000 | Hydrophilic;3.000000 | H->D(indbSNP:rs7451102). | 3 | 67 | 12081 | Unknown | -0.340718660804 |
5985.63649474,5807.84483542 |
0.000000 |
| 1599 | mutation | K.YTQTFTLHANR:.A | P | R | 143 | 11 | 1 | PERP | Q96FX8 | Apoptosis;-Cell-adhesion;-Cell-junction;-Cell-membrane;Complete-proteome;-Membrane;-Polymorphism;-Reference-proteome;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr6 | 138413328-138413332;M1;138413333-138413367 | 2 | 0 | 27 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | P->R(indbSNP:rs648802). | 1 | 45 | 11116 | Targetable-Peptide | -0.482957129054 |
6065.44008842,5807.84483542 |
0.000000 |
| 1600 | mutation | R.GGESV:FG:QLYGDQASFFEAEK.V | I | V | 66 | 5 | 1 | PPIL4 | Q8WUA2 | Complete-proteome;-Isomerase;-Nucleus;-Phosphoprotein;Reference-proteome;-RNA-binding;-Rotamase. | Intracellular | Atlas | chr6 | 149862149-149862195;149862502-149862509;M1;149862510-149862525 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 63 | Unknown | 1.63832625644 |
3947.46335877,5807.84483542 |
0.000000 |
| 1601 | mutation | K.ELVDDS:INNVR.K | V | I | 89 | 7 | 1 | PCMT1 | C9J0F2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J0F2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 150114723-150114744;M1;150114745-150114762 | 1 | 4 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 81 | 47 | 9826 | Unknown | 4.28328102683 |
1236.80014043,5807.84483542 |
0.000000 |
| 1601 | mutation | K.ELVDDS:INNVR.K | V | I | 120 | 7 | 1 | PCMT1 | P22061 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disulfide-bond;Methyltransferase;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr6 | 150114723-150114744;M1;150114745-150114762 | 1 | 4 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs4816). | 81 | 47 | 9826 | Unknown | 4.28328102683 |
1236.80014043,5807.84483542 |
0.000000 |
| 1601 | mutation | K.ELVDDS:INNVR.K | V | I | 178 | 7 | 1 | PCMT1 | A0A0A0MRJ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRJ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 150114723-150114744;M1;150114745-150114762 | 1 | 4 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 81 | 47 | 9826 | Unknown | 4.28328102683 |
1236.80014043,5807.84483542 |
0.000000 |
| 1601 | mutation | K.ELVDDS:INNVR.K | V | I | 178 | 7 | 1 | PCMT1 | H7BY58 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BY58,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 150114723-150114744;M1;150114745-150114762 | 1 | 4 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 81 | 47 | 9826 | Unknown | 4.28328102683 |
1236.80014043,5807.84483542 |
0.000000 |
| 1601 | mutation | K.ELVDDS:INNVR.K | V | I | 143 | 7 | 1 | PCMT1 | F6S8N6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6S8N6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 150114723-150114744;M1;150114745-150114762 | 1 | 4 | 41 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 81 | 47 | 9826 | Unknown | 4.28328102683 |
1236.80014043,5807.84483542 |
0.000000 |
| 1602 | mutation | K.ADSQDAGQETEKEGE:DPQASAQDETPITSAK.E | E | D | 1600 | 16 | 1 | AKAP12 | Q02952 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Isopeptide-bond;-Lipoprotein;-Membrane;-Myristate;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr6 | 151674275-151674325;M1;151674326-151674374 | 4 | 28 | 106 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs3823310). | 9 | 50 | 4289 | Unknown | 2.80400543872 |
2489.55973287,5807.84483542 |
2.535896 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 323 | 6 | 1 | SYNE1 | F8WAI0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAI0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 7763 | 6 | 1 | SYNE1 | E7ENN3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENN3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 323 | 6 | 1 | SYNE1 | Q5JV20 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JV20,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 1090 | 6 | 1 | SYNE1 | H0Y325 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y325,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 814 | 6 | 1 | SYNE1 | H0Y326 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y326,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 8097 | 6 | 1 | SYNE1 | A0A0C4DG40 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG40,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 15 | 5 | 74 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1603 | mutation | K.IEQIIS:QGEQLIEK.S | A | S | 8168 | 6 | 1 | SYNE1 | Q8NF91 | 3D-structure;-Actin-binding;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Disease-mutation;Emery-Dreifuss-muscular-dystrophy;-Golgi-apparatus;-Membrane;Neurodegeneration;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr6 | 152470722-152470751;M1;152470752-152470770 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | A->S(indbSNP:rs17082236). | 15 | 5 | 74 | Perinuclear space | -2.08849901716 |
7816.30194173,5807.84483542 |
2.130772 |
| 1604 | mutation | K.DSLFV:LHELGEQLK.Q | F | V | 6897 | 5 | 1 | SYNE1 | E7ENN3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENN3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 152540245-152540277;M1;152540278-152540293 | 2 | 0 | 43 | 1 | 0 | 0 | 0 | 210 | 155 | -55 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 61 | 457 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
0.000000 |
| 1604 | mutation | K.DSLFV:LHELGEQLK.Q | F | V | 224 | 5 | 1 | SYNE1 | H0Y325 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y325,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 152540245-152540277;M1;152540278-152540293 | 2 | 0 | 43 | 1 | 0 | 0 | 0 | 210 | 155 | -55 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 61 | 457 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
0.000000 |
| 1604 | mutation | K.DSLFV:LHELGEQLK.Q | F | V | 7231 | 5 | 1 | SYNE1 | A0A0C4DG40 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG40,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr6 | 152540245-152540277;M1;152540278-152540293 | 2 | 0 | 43 | 1 | 0 | 0 | 0 | 210 | 155 | -55 | Hydrophobic;4.200000 | -1.500000 | - | 9 | 61 | 457 | Unknown | -2.08849901716 |
7816.30194173,5807.84483542 |
0.000000 |
| 1604 | mutation | K.DSLFV:LHELGEQLK.Q | F | V | 7302 | 5 | 1 | SYNE1 | Q8NF91 | 3D-structure;-Actin-binding;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Disease-mutation;Emery-Dreifuss-muscular-dystrophy;-Golgi-apparatus;-Membrane;Neurodegeneration;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr6 | 152540245-152540277;M1;152540278-152540293 | 2 | 0 | 43 | 1 | 0 | 0 | 0 | 210 | 155 | -55 | Hydrophobic;4.200000 | -1.500000 | F->V(indbSNP:rs2147377). | 9 | 61 | 457 | Perinuclear space | -2.08849901716 |
7816.30194173,5807.84483542 |
0.000000 |
| 1605 | mutation | R.YA:VNSVNILK.A | P | A | 36 | 2 | 1 | TCP1 | E7EQR6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQR6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 160205767-160205796;M1;160205797-160205803 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 249 | Unknown | 4.83176836677 |
967.083596059,5807.84483542 |
0.000000 |
| 1605 | mutation | R.YA:VNSVNILK.A | P | A | 191 | 2 | 1 | TCP1 | P17987 | Acetylation;-ATP-binding;-Chaperone;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr6 | 160205767-160205796;M1;160205797-160205803 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 249 | Unknown | 4.83176836677 |
967.083596059,5807.84483542 |
0.000000 |
| 1605 | mutation | R.YA:VNSVNILK.A | P | A | 191 | 2 | 1 | TCP1 | E7ERF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ERF2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr6 | 160205767-160205796;M1;160205797-160205803 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 249 | Unknown | 4.83176836677 |
967.083596059,5807.84483542 |
0.000000 |
| 1606 | mutation | R.QFEII:SNGPADTLDLTYWIDGTR.H | V | I | 116 | 5 | 1 | THBS2 | P35442 | 3D-structure;-Calcium;-Cell-adhesion;-Complete-proteome;Disulfide-bond;-EGF-like-domain;-Glycoprotein;-Heparin-binding;Polymorphism;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr6 | 169648715-169648774;M1;169648775-169648790 | 1 | 7 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 3 | 279 | Unknown | 2.88470820795 |
2311.54364572,5807.84483542 |
0.000000 |
| 1607 | mutation | R.KHTLS:FVDVGTGK:.V | Y | F | 629 | 6 | 1 | SDHA | P31040 | Acetylation;-Alternative-splicing;-Cardiomyopathy;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Electron-transport;-FAD;Flavoprotein;-Leigh-syndrome;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport;Tricarboxylic-acid-cycle;-Tumor-suppressor. | Intracellular | Atlas | chr5 | 254579-254598;M1;254599-254621;256448-256451 | 3 | 3 | 42 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | Y->F(indbSNP:rs6960). | 18 | 19 | 4576 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1607 | mutation | R.KHTLS:FVDVGTGK:.V | Y | F | 548 | 6 | 1 | SDHA | D6RFM5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Electron-transport-{ECO:0000256|RuleBase:RU362051};Proteomics-identification-{ECO:0000213|EPD:D6RFM5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU362051};Tricarboxylic-acid-cycle-{ECO:0000256|RuleBase:RU362051}. | Intracellular | Atlas | chr5 | 254579-254598;M1;254599-254621;256448-256451 | 3 | 3 | 42 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 19 | 4576 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1607 | mutation | R.KHTLS:FVDVGTGK:.V | Y | F | 484 | 6 | 1 | SDHA | A0A087X1I3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1I3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 254579-254598;M1;254599-254621;256448-256451 | 3 | 3 | 42 | 1 | 0 | 0 | 0 | 230 | 210 | -20 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 19 | 4576 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1608 | mutation | K.TLNEADCAT:IPPAIR.S | V | I | 657 | 10 | 1 | SDHA | P31040 | Acetylation;-Alternative-splicing;-Cardiomyopathy;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Electron-transport;-FAD;Flavoprotein;-Leigh-syndrome;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide;-Transport;Tricarboxylic-acid-cycle;-Tumor-suppressor. | Intracellular | Atlas | chr5 | 256478-256508;M1;256509-256529 | 2 | 3 | 35 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs6962). | 43 | 15 | 3659 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1608 | mutation | K.TLNEADCAT:IPPAIR.S | V | I | 576 | 10 | 1 | SDHA | D6RFM5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Electron-transport-{ECO:0000256|RuleBase:RU362051};Proteomics-identification-{ECO:0000213|EPD:D6RFM5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU362051};Tricarboxylic-acid-cycle-{ECO:0000256|RuleBase:RU362051}. | Intracellular | Atlas | chr5 | 256478-256508;M1;256509-256529 | 2 | 3 | 35 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 43 | 15 | 3659 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1608 | mutation | K.TLNEADCAT:IPPAIR.S | V | I | 512 | 10 | 1 | SDHA | A0A087X1I3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1I3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 256478-256508;M1;256509-256529 | 2 | 3 | 35 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 43 | 15 | 3659 | Unknown | 4.62930005167 |
1070.10661142,5807.84483542 |
0.000000 |
| 1609 | mutation | K.EGI:ILTNESAASTGQPDNDVTEGQR.A | V | I | 715 | 3 | 1 | NSUN2 | Q08J23 | Acetylation;-Alternative-splicing;-Cell-cycle;-Cell-division;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Isopeptide-bond;-Mental-retardation;Methyltransferase;-Mitosis;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-S-adenosyl-L-methionine;-Transferase;tRNA-processing;-tRNA-binding;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 6600128-6600199;M1;6600200-6600209 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 3 | 580 | Unknown | 3.55483862526 |
1815.53091368,5807.84483542 |
0.000000 |
| 1610 | mutation | K.LGFAGLVQEI:LFGTTK.D | S | L | 325 | 11 | 1 | CCT5 | B7ZAR1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7ZAR1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 10261731-10261765;M1;10261766-10261785 | 1 | 9 | 4 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 5.039179536 |
867.269630322,5807.84483542 |
0.000000 |
| 1610 | mutation | K.LGFAGLVQEI:LFGTTK.D | S | L | 363 | 11 | 1 | CCT5 | P48643 | Acetylation;-Alternative-splicing;-ATP-binding;-Chaperone;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Neuropathy;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr5 | 10261731-10261765;M1;10261766-10261785 | 1 | 9 | 4 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 5.039179536 |
867.269630322,5807.84483542 |
0.000000 |
| 1610 | mutation | K.LGFAGLVQEI:LFGTTK.D | S | L | 342 | 11 | 1 | CCT5 | E9PCA1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PCA1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 10261731-10261765;M1;10261766-10261785 | 1 | 9 | 4 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 5.039179536 |
867.269630322,5807.84483542 |
0.000000 |
| 1610 | mutation | K.LGFAGLVQEI:LFGTTK.D | S | L | 308 | 11 | 1 | CCT5 | E7ENZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 10261731-10261765;M1;10261766-10261785 | 1 | 9 | 4 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 5.039179536 |
867.269630322,5807.84483542 |
0.000000 |
| 1611 | mutation | K.AEGAA:MEEEGTPK.E | T | M | 31 | 6 | 1 | BASP1 | P80723 | Alternative-splicing;-Cell-membrane;-Cell-projection;Complete-proteome;-Direct-protein-sequencing;-Isopeptide-bond;Lipoprotein;-Membrane;-Myristate;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 17275397-17275416;M1;17275417-17275442 | 1 | 16 | 18 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 39 | 1 | 121 | Unknown | 4.34181173637 |
1171.53010921,5807.84483542 |
0.000000 |
| 1611 | mutation | K.AEGAA:MEEEGTPK.E | T | M | 31 | 6 | 1 | BASP1 | U3KQP0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:U3KQP0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 17275397-17275416;M1;17275417-17275442 | 1 | 16 | 18 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 39 | 1 | 121 | Unknown | 4.34181173637 |
1171.53010921,5807.84483542 |
0.000000 |
| 1612 | mutation | K.ESEPQAA:TEPAEAK.E | A | T | 46 | 8 | 1 | BASP1 | P80723 | Alternative-splicing;-Cell-membrane;-Cell-projection;Complete-proteome;-Direct-protein-sequencing;-Isopeptide-bond;Lipoprotein;-Membrane;-Myristate;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 17275436-17275460;M1;17275461-17275484 | 1 | 16 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 3 | 129 | Unknown | 4.34181173637 |
1171.53010921,5807.84483542 |
2.321928 |
| 1613 | mutation | K.AQGPAASAEEPKPVE:VPAANSDQTVTVKE.? | A | V | 214 | 16 | 1 | BASP1 | P80723 | Alternative-splicing;-Cell-membrane;-Cell-projection;Complete-proteome;-Direct-protein-sequencing;-Isopeptide-bond;Lipoprotein;-Membrane;-Myristate;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr5 | 17275916-17275965;M1;17275966-17276006 | 1 | 15 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 15 | 2 | 285 | Unknown | 4.34181173637 |
1171.53010921,5807.84483542 |
0 |
| 1614 | mutation | K.NVVY:SCNEGYSLIGNPVAR.C | T | S | 598 | 5 | 1 | C7 | P10643 | 3D-structure;-Complement-alternate-pathway;-Complement-pathway;Complete-proteome;-Cytolysis;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-EGF-like-domain;-Glycoprotein;Immunity;-Innate-immunity;-Membrane-attack-complex;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr5 | 40964869-40964884;M1;40964885-40964932 | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 21 | 2303 | Unknown | 2.73662994474 |
2523.13284106,5807.84483542 |
3.162426 |
| 1615 | mutation | R.SVLRPSQFGGQPCTE:PLVAFQPCIPSK.L | A | E | 119 | 15 | 1 | C6 | P13671 | 3D-structure;-Complement-pathway;-Complete-proteome;-Cytolysis;Direct-protein-sequencing;-Disulfide-bond;-EGF-like-domain;Glycoprotein;-Immunity;-Innate-immunity;-Membrane-attack-complex;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr5 | 41199918-41199958;M1;41199959-41200005 | 2 | 0 | 30 | 1 | 0 | -1 | -1 | 115 | 190 | 75 | -3.500000 | Hydrophilic;3.000000 | A->E(inallotypeC6A; | 69 | 10 | 22 | Unknown | 2.28722011919 |
3014.82954027,5807.84483542 |
0.000000 |
| 1615 | mutation | R.SVLRPSQFGGQPCTE:PLVAFQPCIPSK.L | A | E | 119 | 15 | 1 | C6 | C9JC72 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:C9JC72};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr5 | 41199918-41199958;M1;41199959-41200005 | 2 | 0 | 30 | 1 | 0 | -1 | -1 | 115 | 190 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 69 | 10 | 22 | Unknown | 2.28722011919 |
3014.82954027,5807.84483542 |
0.000000 |
| 1616 | mutation | K.SLGAEPLEV:VLK.E | D | V | 146 | 10 | 1 | NNT | E9PCX7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PCX7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 43628323-43628354;M1;43628355-43628365 | 1 | 4 | 3 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 70 | Intra-Cellular-Peptide | 3.90290463567 |
1526.37297116,5807.84483542 |
0.000000 |
| 1616 | mutation | K.SLGAEPLEV:VLK.E | D | V | 277 | 10 | 1 | NNT | Q13423 | 3D-structure;-Acetylation;-Complete-proteome;-Disease-mutation;Membrane;-Mitochondrion;-Mitochondrion-inner-membrane;-NAD;-NADP;Oxidoreductase;-Reference-proteome;-Transit-peptide;-Transmembrane; | Membrane-Bound | Atlas | chr5 | 43628323-43628354;M1;43628355-43628365 | 1 | 4 | 3 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 1 | 70 | Cytoplasmic | 3.90290463567 |
1526.37297116,5807.84483542 |
0.000000 |
| 1617 | mutation | R.EQFCDY:MFQQAVK.T | L | M | 221 | 7 | 2 | PELO | Q9BRX2 | 3D-structure;-Cell-cycle;-Cell-division;-Complete-proteome;-Cytoplasm;Endonuclease;-Hydrolase;-Metal-binding;-Nuclease;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr5 | 52096867-52096888;M1;52096889-52096912 | 2 | 10 | 9 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | L->M(indbSNP:rs1499280). | 3 | 67 | 7612 | Unknown | 1.37825207655 |
4151.96663751,5807.84483542 |
2.262489 |
| 1618 | mutation | K.FW:RPEEPIEVIR.P | K | R | 182 | 3 | 2 | GPX8 | Q8TED1 | 3D-structure;-Acetylation;-Complete-proteome;-Membrane;Oxidoreductase;-Peroxidase;-Polymorphism;-Reference-proteome;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr5 | 54459950-54459960;M1;54459961-54459992 | 2 | 2 | 22 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs381852). | 11 | 82 | 11995 | Intra-Cellular-Peptide | 3.09135963481 |
2221.8468077,5807.84483542 |
1.000000 |
| 1618 | mutation | K.FW:RPEEPIEVIR.P | K | R | 131 | 3 | 2 | GPX8 | E7ETY7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ETY7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 54459950-54459960;M1;54459961-54459992 | 2 | 2 | 22 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 11 | 82 | 11995 | Unknown | 3.09135963481 |
2221.8468077,5807.84483542 |
1.000000 |
| 1619 | mutation | R.NPNAVLTLV:EDNLAPEYQK.E | D | E | 221 | 10 | 1 | IQGAP2 | D6R939 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R939,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75886303-75886335;M1;75886336-75886366 | 1 | 2 | 5 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 7 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
0 |
| 1619 | mutation | R.NPNAVLTLV:EDNLAPEYQK.E | D | E | 198 | 10 | 1 | IQGAP2 | F5H7S7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7S7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75886303-75886335;M1;75886336-75886366 | 1 | 2 | 5 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 7 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
0 |
| 1619 | mutation | R.NPNAVLTLV:EDNLAPEYQK.E | D | E | 248 | 10 | 1 | IQGAP2 | Q13576 | 3D-structure;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr5 | 75886303-75886335;M1;75886336-75886366 | 1 | 2 | 5 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 7 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
0 |
| 1619 | mutation | R.NPNAVLTLV:EDNLAPEYQK.E | D | E | 198 | 10 | 1 | IQGAP2 | E7EWC2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75886303-75886335;M1;75886336-75886366 | 1 | 2 | 5 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 7 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
0 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 505 | 18 | 1 | IQGAP2 | D6R939 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R939,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 482 | 18 | 1 | IQGAP2 | F5H7S7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7S7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 532 | 18 | 1 | IQGAP2 | Q13576 | 3D-structure;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs2909888). | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 482 | 18 | 1 | IQGAP2 | E7EWC2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 85 | 18 | 1 | IQGAP2 | D6RDK8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RDK8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 85 | 18 | 1 | IQGAP2 | E9PDT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1620 | mutation | K.VLWLDEIQQAVDDANVD:EDR.A | K | E | 85 | 18 | 1 | IQGAP2 | D6RGC6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RGC6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75923252-75923306;M1;75923307-75923318 | 1 | 0 | 1 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 56 | 471 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.918342 |
| 1621 | mutation | K.ESSWVTPESC:FYK.E | L | F | 602 | 11 | 1 | IQGAP2 | D6R939 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R939,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75932929-75932964;M1;75932965-75932974 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 47 | 521 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.938279 |
| 1621 | mutation | K.ESSWVTPESC:FYK.E | L | F | 579 | 11 | 1 | IQGAP2 | F5H7S7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7S7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75932929-75932964;M1;75932965-75932974 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 47 | 521 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.938279 |
| 1621 | mutation | K.ESSWVTPESC:FYK.E | L | F | 629 | 11 | 1 | IQGAP2 | Q13576 | 3D-structure;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr5 | 75932929-75932964;M1;75932965-75932974 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | L->F(indbSNP:rs2455230). | 15 | 47 | 521 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.938279 |
| 1621 | mutation | K.ESSWVTPESC:FYK.E | L | F | 579 | 11 | 1 | IQGAP2 | E7EWC2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75932929-75932964;M1;75932965-75932974 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 47 | 521 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.938279 |
| 1621 | mutation | K.ESSWVTPESC:FYK.E | L | F | 182 | 11 | 1 | IQGAP2 | E9PDT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75932929-75932964;M1;75932965-75932974 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 15 | 47 | 521 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
1.938279 |
| 1622 | mutation | R.QTFIDNTDS:VVK:.I | I | V | 697 | 10 | 1 | IQGAP2 | D6R939 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R939,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75948619-75948649;M1;75948650-75948658;75950024-75950027 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 26 | 45 | 561 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
3.453445 |
| 1622 | mutation | R.QTFIDNTDS:VVK:.I | I | V | 674 | 10 | 1 | IQGAP2 | F5H7S7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7S7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75948619-75948649;M1;75948650-75948658;75950024-75950027 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 26 | 45 | 561 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
3.453445 |
| 1622 | mutation | R.QTFIDNTDS:VVK:.I | I | V | 724 | 10 | 1 | IQGAP2 | Q13576 | 3D-structure;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr5 | 75948619-75948649;M1;75948650-75948658;75950024-75950027 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs2431363). | 26 | 45 | 561 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
3.453445 |
| 1622 | mutation | R.QTFIDNTDS:VVK:.I | I | V | 674 | 10 | 1 | IQGAP2 | E7EWC2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75948619-75948649;M1;75948650-75948658;75950024-75950027 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 26 | 45 | 561 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
3.453445 |
| 1622 | mutation | R.QTFIDNTDS:VVK:.I | I | V | 277 | 10 | 1 | IQGAP2 | E9PDT6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PDT6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 75948619-75948649;M1;75948650-75948658;75950024-75950027 | 1 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 26 | 45 | 561 | Unknown | 2.41556393887 |
2990.24478735,5807.84483542 |
3.453445 |
| 1623 | mutation | K.VAD:VSLLALYK.G | N | D | 127 | 3 | 1 | RPS23 | P62266 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Hydroxylation;-Reference-proteome;Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr5 | 81571951-81571980;M1;81571981-81571990 | 1 | 3 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 12 | 2971 | Unknown | 5.28634011523 |
784.0502406,5807.84483542 |
0.000000 |
| 1624 | mutation | R.NGFDQCDYGWL:LDASVR.H | S | L | 300 | 12 | 1 | VCAN | D6RGZ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:D6RGZ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr5 | 82808034-82808071;M1;82808072-82808091 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 33 | Unknown | 1.61404185564 |
3934.16702505,5807.84483542 |
0.000000 |
| 1624 | mutation | R.NGFDQCDYGWL:LDASVR.H | S | L | 252 | 12 | 1 | VCAN | E9PF17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00601599};EGF-like-domain-{ECO:0000256|SAAS:SAAS00438935};Proteomics-identification-{ECO:0000213|EPD:E9PF17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr5 | 82808034-82808071;M1;82808072-82808091 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 33 | Unknown | 1.61404185564 |
3934.16702505,5807.84483542 |
0.000000 |
| 1624 | mutation | R.NGFDQCDYGWL:LDASVR.H | S | L | 300 | 12 | 1 | VCAN | P13611 | Alternative-splicing;-Calcium;-Cataract;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Hyaluronic-acid;Immunoglobulin-domain;-Lectin;-Phosphoprotein;-Polymorphism;Proteoglycan;-Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr5 | 82808034-82808071;M1;82808072-82808091 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs2652098). | 3 | 2 | 33 | Unknown | 1.61404185564 |
3934.16702505,5807.84483542 |
0.000000 |
| 1624 | mutation | R.NGFDQCDYGWL:LDASVR.H | S | L | 300 | 12 | 1 | VCAN | Q86W61 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:Q86W61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr5 | 82808034-82808071;M1;82808072-82808091 | 2 | 8 | 6 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 33 | Unknown | 1.61404185564 |
3934.16702505,5807.84483542 |
0.000000 |
| 1625 | mutation | K.T:YGQVSGEAIK.M | D | Y | 2937 | 2 | 1 | VCAN | P13611 | Alternative-splicing;-Calcium;-Cataract;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Hyaluronic-acid;Immunoglobulin-domain;-Lectin;-Phosphoprotein;-Polymorphism;Proteoglycan;-Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr5 | 82837624-82837630;M1;82837631-82837663 | 2 | 2 | 93 | 1 | -1 | 0 | 1 | 150 | 230 | 80 | -1.300000 | -2.300000 | D->Y(indbSNP:rs160277). | 52 | 44 | 3700 | Unknown | 1.61404185564 |
3934.16702505,5807.84483542 |
0.000000 |
| 1626 | mutation | R.SE:LLLLACVHNYQPCVQR.A | Q | E | 730 | 2 | 1 | ERAP1 | Q9NZ08 | 3D-structure;-Adaptive-immunity;-Alternative-splicing;-Aminopeptidase;Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Endoplasmic-reticulum;-Glycoprotein;-Hydrolase;-Immunity;-Membrane;Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr5 | 96118798-96118851;M1;96118852-96118858 | 2 | 2 | 13 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | Q->E(indbSNP:rs27044). | 39 | 53 | 3568 | Lumenal | 3.27066698466 |
2074.63730776,5807.84483542 |
1.844900 |
| 1627 | mutation | K.TMMNTWTLQR:.G | K | R | 528 | 10 | 1 | ERAP1 | Q9NZ08 | 3D-structure;-Adaptive-immunity;-Alternative-splicing;-Aminopeptidase;Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Endoplasmic-reticulum;-Glycoprotein;-Hydrolase;-Immunity;-Membrane;Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr5 | 96124325-96124329;M1;96124330-96124361 | 1 | 0 | 2 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs30187). | 1 | 49 | 2931 | Lumenal | 3.27066698466 |
2074.63730776,5807.84483542 |
2.470564 |
| 1628 | mutation | R.QTEHSPEDAACGPGHICSER:.N | Q | R | 297 | 20 | 1 | PJA2 | O43164 | Acetylation;-Alternative-splicing;-Cell-junction;-Cell-membrane;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Endoplasmic-reticulum;-Golgi-apparatus;-Ligase;-Membrane;Metal-binding;-Phosphoprotein;-Polymorphism;Postsynaptic-cell-membrane;-Reference-proteome;-Synapse;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr5 | 108714293-108714297;M1;108714298-108714359 | 1 | 2 | 1 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs1045706). | 1 | 50 | 3909 | Unknown | -1.81369078979 |
7738.97466738,5807.84483542 |
2.234181 |
| 1629 | mutation | K.VIDGM:TVVHSIELQATDGHDRPLTS:CSIINSGK.I | N | S | 190 | 25 | 1 | PPIC | P45877 | 3D-structure;-Complete-proteome;-Cyclosporin;-Cytoplasm;-Isomerase;Polymorphism;-Reference-proteome;-Rotamase. | Intracellular | Atlas | chr5 | 122359611-122359639;M1;122359640-122359698;122361478-122361496 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs451195). | 9 | 32 | 5474 | Unknown | 2.08802000814 |
3192.61411589,5807.84483542 |
2.599348 |
| 1630 | mutation | K.FK:NEEEVFAWNNEVN:QGLSSSIFTK.D | K | N | 388 | 15 | 1 | ALDH7A1 | F8VS02 | - | Intracellular | Atlas | chr5 | 125885913-125885946;M1;125885947-125885985;125887712-125887721 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 243 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0 |
| 1630 | mutation | K.FK:NEEEVFAWNNEVN:QGLSSSIFTK.D | K | N | 452 | 15 | 1 | ALDH7A1 | P49419 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Disease-mutation;-Epilepsy;-Mitochondrion;-NAD;-Nucleus;Oxidoreductase;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr5 | 125885913-125885946;M1;125885947-125885985;125887712-125887721 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 243 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0 |
| 1631 | mutation | K.V:QVLGSL:VSLEMGK.I | I | V | 125 | 1 | 1 | ALDH7A1 | F8VS02 | - | Intracellular | Atlas | chr5 | 125918642-125918666;125919623-125919643;M1;125919644-125919647 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 166 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0.000000 |
| 1631 | mutation | K.V:QVLGSL:VSLEMGK.I | I | V | 125 | 1 | 1 | ALDH7A1 | P49419 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Disease-mutation;-Epilepsy;-Mitochondrion;-NAD;-Nucleus;Oxidoreductase;-Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr5 | 125918642-125918666;125919623-125919643;M1;125919644-125919647 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 166 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0.000000 |
| 1631 | mutation | K.V:QVLGSL:VSLEMGK.I | I | V | 85 | 1 | 1 | ALDH7A1 | F8VVF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VVF2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 125918642-125918666;125919623-125919643;M1;125919644-125919647 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 166 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0.000000 |
| 1631 | mutation | K.V:QVLGSL:VSLEMGK.I | I | V | 125 | 1 | 1 | ALDH7A1 | A0A0J9YWF7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YWF7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 125918642-125918666;125919623-125919643;M1;125919644-125919647 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 166 | Unknown | 4.90598193476 |
934.94217905,5807.84483542 |
0.000000 |
| 1632 | mutation | K.EDIYSGGGGGS:SR.S | G | S | 187 | 11 | 1 | HNRNPA0 | Q13151 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Isopeptide-bond;-Methylation;-Nucleus;-Phosphoprotein;Reference-proteome;-Repeat;-Ribonucleoprotein;-RNA-binding; | Intracellular | Atlas | chr5 | 137089185-137089196;M1;137089197-137089230 | 2 | 13 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 200 | Unknown | 4.5714566519 |
1098.4721191,5807.84483542 |
0.000000 |
| 1633 | mutation | R.LIHVMLMDNS:TPQSE:GGTLK.A | A | T | 192 | 11 | 1 | KDM3B | H0Y9V5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9V5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 137717231-137717264;M1;137717265-137717279;137721710-137721728 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 67 | 5785 | Unknown | 1.48869681372 |
4196.20422173,5807.84483542 |
2.510905 |
| 1633 | mutation | R.LIHVMLMDNS:TPQSE:GGTLK.A | A | T | 256 | 11 | 1 | KDM3B | Q7LBC6 | 3D-structure;-Acetylation;-Alternative-splicing;-Chromatin-regulator;Complete-proteome;-Dioxygenase;-Iron;-Metal-binding;-Nucleus;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Reference-proteome;Transcription;-Transcription-regulation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr5 | 137717231-137717264;M1;137717265-137717279;137721710-137721728 | 2 | 3 | 6 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs6865472). | 3 | 67 | 5785 | Unknown | 1.48869681372 |
4196.20422173,5807.84483542 |
2.510905 |
| 1634 | mutation | K.LFCQ:TLEDILADAPESQNNCR.L | R | Q | 293 | 4 | 1 | TMEM173 | Q86WV6 | 3D-structure;-Apoptosis;-Cell-membrane;-Complete-proteome;-Cytoplasm;Disease-mutation;-Endoplasmic-reticulum;-Immunity;-Innate-immunity;Isopeptide-bond;-Membrane;-Mitochondrion;Mitochondrion-outer-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr5 | 138856926-138856981;M1;138856982-138856995 | 2 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs7380824). | 21 | 18 | 2545 | Intra-Cellular-Peptide | 1.78429485392 |
3457.04461868,5807.84483542 |
0.000000 |
| 1635 | mutation | R.FLDKLPQQTGDR:.A | H | R | 232 | 12 | 1 | TMEM173 | Q86WV6 | 3D-structure;-Apoptosis;-Cell-membrane;-Complete-proteome;-Cytoplasm;Disease-mutation;-Endoplasmic-reticulum;-Immunity;-Innate-immunity;Isopeptide-bond;-Membrane;-Mitochondrion;Mitochondrion-outer-membrane;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr5 | 138857914-138857918;M1;138857919-138857956 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(activatedbyboth2'-3'linked | 1 | 64 | 10943 | Intra-Cellular-Peptide | 1.78429485392 |
3457.04461868,5807.84483542 |
0.000000 |
| 1635 | mutation | R.FLDKLPQQTGDR:.A | H | R | 232 | 12 | 1 | TMEM173 | J3QTB1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QTB1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 138857914-138857918;M1;138857919-138857956 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 64 | 10943 | Unknown | 1.78429485392 |
3457.04461868,5807.84483542 |
0.000000 |
| 1636 | mutation | K.SCCDYALHVDITHWNDSI:K.Q | V | I | 148 | 18 | 1 | DPYSL3 | Q14195 | 3D-structure;-Alternative-splicing;-Cell-projection;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr5 | 146795299-146795307;M1;146795308-146795362 | 1 | 3 | 17 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 30 | 1 | 250 | Unknown | 5.34631763247 |
774.665238368,5807.84483542 |
0.000000 |
| 1637 | mutation | K.SCCDYALHVDV:THWNDSVK.Q | I | V | 141 | 11 | 1 | DPYSL3 | Q14195 | 3D-structure;-Alternative-splicing;-Cell-projection;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr5 | 146795299-146795328;M1;146795329-146795362 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 2 | 458 | Unknown | 5.34631763247 |
774.665238368,5807.84483542 |
0.000000 |
| 1638 | mutation | K.AALAGGTTMII:DHVVPEPESN:LTEAYEK.W | S | N | 115 | 21 | 1 | DPYSL3 | Q14195 | 3D-structure;-Alternative-splicing;-Cell-projection;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr5 | 146795380-146795405;M1;146795406-146795436;146798009-146798043 | 1 | 7 | 36 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 31 | 346 | Unknown | 5.34631763247 |
774.665238368,5807.84483542 |
0.000000 |
| 1639 | mutation | K.GMGTVEG:ADQSNPK.S | G | A | 131 | 8 | 1 | TCOF1 | H0YA99 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YA99,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 149776329-149776354;M1;149776355-149776377 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 5 | 777 | Unknown | 2.56827518348 |
2832.54873497,5807.84483542 |
0.000000 |
| 1639 | mutation | K.GMGTVEG:ADQSNPK.S | G | A | 1431 | 8 | 1 | TCOF1 | Q13428 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Isopeptide-bond;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transport; | Intracellular | Atlas | chr5 | 149776329-149776354;M1;149776355-149776377 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs45491898). | 9 | 5 | 777 | Unknown | 2.56827518348 |
2832.54873497,5807.84483542 |
0.000000 |
| 1639 | mutation | K.GMGTVEG:ADQSNPK.S | G | A | 1393 | 8 | 1 | TCOF1 | J3KQ96 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KQ96,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 149776329-149776354;M1;149776355-149776377 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 5 | 777 | Unknown | 2.56827518348 |
2832.54873497,5807.84483542 |
0.000000 |
| 1639 | mutation | K.GMGTVEG:ADQSNPK.S | G | A | 1431 | 8 | 1 | TCOF1 | E7ETY2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ETY2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 149776329-149776354;M1;149776355-149776377 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 9 | 5 | 777 | Unknown | 2.56827518348 |
2832.54873497,5807.84483542 |
0.000000 |
| 1640 | mutation | R.LDKLTVTSQD:LQLENLR.M | N | D | 87 | 10 | 1 | CD74 | E7ESL3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7ESL3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 149786727-149786753;M1;149786754-149786784 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 6 | 1500 | Targetable-Peptide | 3.97334887685 |
1446.09181602,5807.84483542 |
0.000000 |
| 1640 | mutation | R.LDKLTVTSQD:LQLENLR.M | N | D | 87 | 10 | 1 | CD74 | E7EQJ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7EQJ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 149786727-149786753;M1;149786754-149786784 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 6 | 1500 | Targetable-Peptide | 3.97334887685 |
1446.09181602,5807.84483542 |
0.000000 |
| 1640 | mutation | R.LDKLTVTSQD:LQLENLR.M | N | D | 84 | 10 | 1 | CD74 | H0YBZ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H0YBZ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 149786727-149786753;M1;149786754-149786784 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 6 | 1500 | Intra-Cellular-Peptide | 3.97334887685 |
1446.09181602,5807.84483542 |
0.000000 |
| 1640 | mutation | R.LDKLTVTSQD:LQLENLR.M | N | D | 87 | 10 | 1 | CD74 | P04233 | 3D-structure;-Adaptive-immunity;-Alternative-splicing;-Cell-membrane;Chaperone;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Endoplasmic-reticulum;-Endosome;-Glycoprotein;Golgi-apparatus;-Immunity;-Lysosome;-Membrane;-Phosphoprotein;Proteoglycan;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr5 | 149786727-149786753;M1;149786754-149786784 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 6 | 1500 | Targetable | 3.97334887685 |
1446.09181602,5807.84483542 |
0.000000 |
| 1640 | mutation | R.LDKLTVTSQD:LQLENLR.M | N | D | 82 | 10 | 1 | CD74 | H0YBZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|PIRSR:PIRSR001992-1,ECO:0000256|SAAS:SAAS00485231};-Membrane-{ECO:0000256|SAM:Phobius};Proteomics-identification-{ECO:0000213|MaxQB:H0YBZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr5 | 149786727-149786753;M1;149786754-149786784 | 1 | 1 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 6 | 1500 | Intra-Cellular-Peptide | 3.97334887685 |
1446.09181602,5807.84483542 |
0.000000 |
| 1641 | mutation | K.AETSLGIPS:PSEISTEVK.Y | G | S | 122 | 9 | 1 | FAM114A2 | E5RGF9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RGF9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 153413357-153413389;M1;153413390-153413417 | 1 | 0 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 38 | 63 | 1907 | Unknown | 2.11082850153 |
3341.47319521,5807.84483542 |
2.427450 |
| 1641 | mutation | K.AETSLGIPS:PSEISTEVK.Y | G | S | 122 | 9 | 1 | FAM114A2 | E5RFK2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RFK2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 153413357-153413389;M1;153413390-153413417 | 1 | 0 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 38 | 63 | 1907 | Unknown | 2.11082850153 |
3341.47319521,5807.84483542 |
2.427450 |
| 1641 | mutation | K.AETSLGIPS:PSEISTEVK.Y | G | S | 122 | 9 | 1 | FAM114A2 | Q9NRY5 | Coiled-coil;-Complete-proteome;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr5 | 153413357-153413389;M1;153413390-153413417 | 1 | 0 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 38 | 63 | 1907 | Unknown | 2.11082850153 |
3341.47319521,5807.84483542 |
2.427450 |
| 1641 | mutation | K.AETSLGIPS:PSEISTEVK.Y | G | S | 52 | 9 | 1 | FAM114A2 | E7ESJ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESJ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 153413357-153413389;M1;153413390-153413417 | 1 | 0 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 38 | 63 | 1907 | Unknown | 2.11082850153 |
3341.47319521,5807.84483542 |
2.427450 |
| 1641 | mutation | K.AETSLGIPS:PSEISTEVK.Y | G | S | 122 | 9 | 1 | FAM114A2 | I6L9D5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I6L9D5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 153413357-153413389;M1;153413390-153413417 | 1 | 0 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 38 | 63 | 1907 | Unknown | 2.11082850153 |
3341.47319521,5807.84483542 |
2.427450 |
| 1642 | mutation | R.LQ:GTLAADKNEILFSEFNINYNNE:PPMYR.K | L | P | 232 | 25 | 1 | THG1L | Q9NWX6 | 3D-structure;-Complete-proteome;-Cytoplasm;-GTP-binding;-Magnesium;Metal-binding;-Nucleotide-binding;-Nucleotidyltransferase;Polymorphism;-Reference-proteome;-Transferase;-tRNA-processing. | Intracellular | Atlas | chr5 | 157162933-157162942;157164894-157164961;M1;157164962-157164978 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | L->P(indbSNP:rs2270812). | 3 | 55 | 4401 | Unknown | 0.390495317542 |
5378.94823234,5807.84483542 |
2.136517 |
| 1643 | mutation | K.DNFHGLAIFLDTYPD:DETTE:R.V | N | D | 166 | 15 | 1 | LMAN2 | D6RBV2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RBV2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr5 | 176764519-176764525;176764706-176764723;M1;176764724-176764769 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 34 | 2 | 500 | Unknown | 4.68384095176 |
1039.73563543,5807.84483542 |
0.000000 |
| 1643 | mutation | K.DNFHGLAIFLDTYPD:DETTE:R.V | N | D | 95 | 15 | 1 | LMAN2 | D6RIU4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RIU4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 176764519-176764525;176764706-176764723;M1;176764724-176764769 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 34 | 2 | 500 | Unknown | 4.68384095176 |
1039.73563543,5807.84483542 |
0.000000 |
| 1643 | mutation | K.DNFHGLAIFLDTYPD:DETTE:R.V | N | D | 166 | 15 | 1 | LMAN2 | Q12907 | Calcium;-Complete-proteome;-Disulfide-bond;-Endoplasmic-reticulum;Glycoprotein;-Golgi-apparatus;-Lectin;-Membrane;-Metal-binding;Protein-transport;-Reference-proteome;-Signal;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr5 | 176764519-176764525;176764706-176764723;M1;176764724-176764769 | 1 | 4 | 16 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 34 | 2 | 500 | Lumenal | 4.68384095176 |
1039.73563543,5807.84483542 |
0.000000 |
| 1644 | mutation | R.LCHCPVGYTGP:FCDVD:TK.A | A | P | 207 | 11 | 2 | F12 | P00748 | 3D-structure;-Blood-coagulation;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;EGF-like-domain;-Fibrinolysis;-Glycoprotein;-Hemostasis;-Hydrolase;Kringle;-Polymorphism;-Protease;-Reference-proteome;-Repeat;-Secreted;Serine-protease;-Signal;-Zymogen. | Intracellular | Atlas | chr5 | 176831654-176831665;176831810-176831825;M1;176831826-176831859 | 2 | 3 | 104 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | A->P(indbSNP:rs17876030). | 1 | 29 | 96 | Unknown | 1.07163531423 |
4451.19303662,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 74 | 25 | 1 | GNB2L1 | D6RHJ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHJ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 89 | 25 | 1 | GNB2L1 | D6RF23 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RF23,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 257 | 25 | 1 | GNB2L1 | D6RAC2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RAC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 186 | 25 | 1 | GNB2L1 | H0YAF8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAF8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 305 | 25 | 1 | GNB2L1 | P63244 | 3D-structure;-Acetylation;-Apoptosis;-Biological-rhythms;-Cell-cycle;Cell-membrane;-Cell-projection;-Complete-proteome;-Cytoplasm;Developmental-protein;-Direct-protein-sequencing;-Gastrulation;Growth-regulation;-Host-virus-interaction;-Membrane;-Nucleus;Phosphoprotein;-Reference-proteome;-Repeat;-Translation-regulation; | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1645 | mutation | K.AEPPQCTSLAWSADGQ:TLFAGYTDD:LVR.V | N | D | 261 | 25 | 1 | GNB2L1 | J3KPE3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KPE3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664003-180664017;M1;180664018-180664042;180664608-180664659 | 1 | 1 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 5 | 1247 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1646 | mutation | K.TNHIGHTGYLNTVTVSPE:GSLCASGGK:.T | D | E | 203 | 18 | 1 | GNB2L1 | D6RHH4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHH4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180664039-180664042;180666066-180666093;M1;180666094-180666150 | 1 | 5 | 15 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 159 | 4 | 1 | GNB2L1 | D6RHH4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHH4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 118 | 4 | 1 | GNB2L1 | D6RFX4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RFX4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 111 | 4 | 1 | GNB2L1 | D6RAC2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RAC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 90 | 4 | 1 | GNB2L1 | H0Y8W2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y8W2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 177 | 4 | 1 | GNB2L1 | D6REE5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6REE5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 145 | 4 | 1 | GNB2L1 | D6R9Z1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R9Z1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 135 | 4 | 1 | GNB2L1 | D6RBD0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RBD0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 17 | 4 | 1 | GNB2L1 | H0Y8R5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y8R5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 77 | 4 | 1 | GNB2L1 | H0YAF8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAF8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 159 | 4 | 1 | GNB2L1 | P63244 | 3D-structure;-Acetylation;-Apoptosis;-Biological-rhythms;-Cell-cycle;Cell-membrane;-Cell-projection;-Complete-proteome;-Cytoplasm;Developmental-protein;-Direct-protein-sequencing;-Gastrulation;Growth-regulation;-Host-virus-interaction;-Membrane;-Nucleus;Phosphoprotein;-Reference-proteome;-Repeat;-Translation-regulation; | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 66 | 4 | 1 | GNB2L1 | H0YAM7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAM7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 207 | 4 | 1 | GNB2L1 | D6R9L0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R9L0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1647 | mutation | R.FSPD:SSNPIIVSCGWDK.- | N | D | 115 | 4 | 1 | GNB2L1 | J3KPE3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KPE3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr5 | 180666495-180666536;M1;180666537-180666549 | 1 | 2 | 14 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 33 | 49 | 12227 | Unknown | 5.83240440287 |
665.379375251,5807.84483542 |
0.000000 |
| 1648 | mutation | A.EAPHLV:QVDAAR.A | H | Q | 33 | 7 | 2 | IDUA | P35475 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Glycosidase;Hydrolase;-Lysosome;-Mucopolysaccharidosis;-Polymorphism;Reference-proteome;-Signal. | Intracellular | Atlas | chr4 | 980947-980970;M1;980971-980989 | 2 | 0 | 36 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | H->Q(indbSNP:rs10794537). | 1 | 66 | 3785 | Unknown | 0.682015578745 |
5068.48877952,5807.84483542 |
1.000000 |
| 1648 | mutation | A.EAPHLV:QVDAAR.A | H | Q | 33 | 7 | 2 | IDUA | D6R9D5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:D6R9D5};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 980947-980970;M1;980971-980989 | 2 | 0 | 36 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 66 | 3785 | Unknown | 0.682015578745 |
5068.48877952,5807.84483542 |
1.000000 |
| 1649 | mutation | R.GDEASEE:WQNGSSPK.S | G | W | 460 | 8 | 1 | ADD1 | E7EV99 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EV99,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2906682-2906706;M1;2906707-2906733 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 75 | 255 | 180 | -0.900000 | -3.400000 | - | 9 | 29 | 6561 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1649 | mutation | R.GDEASEE:WQNGSSPK.S | G | W | 166 | 8 | 1 | ADD1 | H0Y9H2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9H2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2906682-2906706;M1;2906707-2906733 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 75 | 255 | 180 | -0.900000 | -3.400000 | - | 9 | 29 | 6561 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1649 | mutation | R.GDEASEE:WQNGSSPK.S | G | W | 460 | 8 | 1 | ADD1 | E7ENY0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENY0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2906682-2906706;M1;2906707-2906733 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 75 | 255 | 180 | -0.900000 | -3.400000 | - | 9 | 29 | 6561 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1649 | mutation | R.GDEASEE:WQNGSSPK.S | G | W | 460 | 8 | 1 | ADD1 | P35611 | Acetylation;-Actin-binding;-Alternative-splicing;-Calmodulin-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Membrane;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr4 | 2906682-2906706;M1;2906707-2906733 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 75 | 255 | 180 | -0.900000 | -3.400000 | G->W(indbSNP:rs4961). | 9 | 29 | 6561 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1650 | mutation | K.G:CE:ENLDEAR.E | S | C | 586 | 2 | 1 | ADD1 | E7EV99 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EV99,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2916754-2916761;M1;2916762-2916767;2927740-2927763 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 38 | 5003 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1650 | mutation | K.G:CE:ENLDEAR.E | S | C | 323 | 2 | 1 | ADD1 | H0Y9H2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9H2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2916754-2916761;M1;2916762-2916767;2927740-2927763 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 38 | 5003 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1650 | mutation | K.G:CE:ENLDEAR.E | S | C | 32 | 2 | 1 | ADD1 | H0YG19 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YG19,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2916754-2916761;M1;2916762-2916767;2927740-2927763 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 38 | 5003 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1650 | mutation | K.G:CE:ENLDEAR.E | S | C | 617 | 2 | 1 | ADD1 | E7ENY0 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENY0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 2916754-2916761;M1;2916762-2916767;2927740-2927763 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | - | 6 | 38 | 5003 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1650 | mutation | K.G:CE:ENLDEAR.E | S | C | 586 | 2 | 1 | ADD1 | P35611 | Acetylation;-Actin-binding;-Alternative-splicing;-Calmodulin-binding;Cell-membrane;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Membrane;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr4 | 2916754-2916761;M1;2916762-2916767;2927740-2927763 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 115 | 135 | 20 | Hydrophobic;2.500000 | -1.000000 | S->C(indbSNP:rs4963). | 6 | 38 | 5003 | Unknown | 3.02587897468 |
2282.44731574,5807.84483542 |
0.000000 |
| 1651 | mutation | R.LRDGDS:NSTLEEHSEGK.Q | T | N | 1720 | 7 | 1 | HTT | P42858 | 3D-structure;-Acetylation;-Apoptosis;-Complete-proteome;-Cytoplasm;Disease-mutation;-Neurodegeneration;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Triplet-repeat-expansion; | Intracellular | Atlas | chr4 | 3189524-3189546;M1;3189547-3189581 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 140 | 160 | 20 | -3.500000 | Hydrophilic;0.200000 | T->N(indbSNP:rs363125). | 1 | 16 | 1024 | Unknown | 0.178497331938 |
5768.92875757,5807.84483542 |
3.169925 |
| 1652 | mutation | R.LIH:NLNV:ILAK.Y | R | H | 113 | 3 | 1 | LRPAP1 | P30533 | 3D-structure;-Coiled-coil;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Endoplasmic-reticulum;-Glycoprotein;Heparin-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr4 | 3521903-3521920;3526633-3526644;M1;3526645-3526655 | 1 | 5 | 4 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 7 | 1748 | Unknown | 3.77886008513 |
1625.12792137,5807.84483542 |
0.000000 |
| 1653 | mutation | K.FKFTV:G:DHSR.F | I | V | 189 | 5 | 1 | WDR1 | D6RD66 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RD66,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 10090350-10090365;10099334-10099339;M1;10099340-10099355 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 60 | 14096 | Unknown | 5.21318318569 |
818.163999697,5807.84483542 |
0.000000 |
| 1653 | mutation | K.FKFTV:G:DHSR.F | I | V | 185 | 5 | 1 | WDR1 | O75083 | Acetylation;-Actin-binding;-Alternative-splicing;-Cell-junction;Cell-projection;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-WD-repeat. | Intracellular | Atlas | chr4 | 10090350-10090365;10099334-10099339;M1;10099340-10099355 | 1 | 6 | 3 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs13441). | 6 | 60 | 14096 | Unknown | 5.21318318569 |
818.163999697,5807.84483542 |
0.000000 |
| 1654 | mutation | R.RDDDG:TLHAACQVQPSAT:LDAAQPR.V | A | T | 58 | 6 | 1 | SOD3 | P08294 | 3D-structure;-Antioxidant;-Complete-proteome;-Copper;Direct-protein-sequencing;-Disulfide-bond;-Glycation;-Glycoprotein;Heparin-binding;-Metal-binding;-Oxidoreductase;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Zinc. | Secreted | Atlas | chr4 | 24801296-24801314;M1;24801315-24801353;M1;24801354-24801377 | 4 | 6 | 56 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs2536512). | 5 | 64 | 13246 | Unknown | 1.35143436395 |
3977.37191307,5807.84483542 |
0.000000 |
| 1655 | mutation | K.VEDPPLDL:WLVPHSCGQVCER.E | P | L | 246 | 8 | 1 | NFXL1 | Q6ZNB6 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Membrane;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Transmembrane;-Transmembrane-helix;-Zinc;-Zinc-finger. | Membrane-Bound | Atlas | chr4 | 47901432-47901475;M1;47901476-47901501 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs12651301). | 6 | 45 | 936 | Targetable-Peptide | 0.715129495474 |
5095.32359081,5807.84483542 |
2.012981 |
| 1656 | mutation | K.QNADQQDTEAM:PDYKK.Q | S | P | 227 | 12 | 1 | SPATA18 | E7EVV3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E7EVV3};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 52938206-52938242;M1;52938243-52938260 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 1 | 41 | 570 | Unknown | -0.699223319076 |
5734.46348462,5807.84483542 |
4.459432 |
| 1656 | mutation | K.QNADQQDTEAM:PDYKK.Q | S | P | 227 | 12 | 1 | SPATA18 | Q8TC71 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Membrane;-Mitochondrion;-Mitochondrion-outer-membrane;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr4 | 52938206-52938242;M1;52938243-52938260 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | S->P(indbSNP:rs3860707). | 1 | 41 | 570 | Unknown | -0.699223319076 |
5734.46348462,5807.84483542 |
4.459432 |
| 1657 | mutation | K.ALAQVFCEESGS:SPLLQK.I | L | S | 512 | 12 | 1 | SCFD2 | Q8WU76 | Alternative-splicing;-Complete-proteome;-Polymorphism;Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr4 | 54011503-54011525;M1;54011526-54011563 | 2 | 0 | 21 | 1 | 0 | 0 | 0 | 170 | 115 | -55 | -0.800000 | Hydrophilic;0.300000 | L->S(indbSNP:rs7675987). | 3 | 35 | 1480 | Unknown | 0.636110684363 |
5141.06280148,5807.84483542 |
2.347061 |
| 1659 | mutation | K.LPE:ATPTELAK.L | D | E | 432 | 3 | 1 | GC | D6RF35 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RF35,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 72618306-72618333;M1;72618334-72618345 | 2 | 0 | 129 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 117 | 1 | 4 | Unknown | 5.46350480405 |
721.961776738,5807.84483542 |
0.000000 |
| 1660 | mutation | K.LKHELTDEELQSLFTNFA:DVVDK.C | N | D | 575 | 19 | 1 | AFM | P43652 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Glycoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr4 | 74367522-74367579;M1;74367580-74367597 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 1 | Unknown | 3.57170202714 |
1753.22708172,5807.84483542 |
0 |
| 1661 | mutation | K.KLDDFI::ETGDIR.T | V | I | 396 | 6 | 1 | SCARB2 | Q14108 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Epilepsy;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Host-virus-interaction;-Lysosome;Membrane;-Polymorphism;-Receptor;-Reference-proteome;-Transmembrane; | Membrane-Bound | Atlas | chr4 | 77087432-77087454;77089555-77089556;M1;77089557-77089575 | 1 | 1 | 9 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 13 | 1 | 219 | Lumenal | 3.69137484663 |
1687.50079873,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 717 | 10 | 1 | SEC31A | O94979 | 3D-structure;-Alternative-splicing;-Chromosomal-rearrangement;Complete-proteome;-Cytoplasm;-Cytoplasmic-vesicle;Endoplasmic-reticulum;-ER-Golgi-transport;-Isopeptide-bond;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Proto-oncogene;Reference-proteome;-Repeat;-Transport;-Ubl-conjugation;-WD-repeat. | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 717 | 10 | 1 | SEC31A | D6REX3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6REX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 450 | 10 | 1 | SEC31A | H7BXG7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXG7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 206 | 10 | 1 | SEC31A | H0Y9K1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9K1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 717 | 10 | 1 | SEC31A | D6RHZ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1662 | mutation | K.AQDGSHPLSF:Q:DLIEK.V | L | F | 334 | 10 | 1 | SEC31A | H0YAB3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAB3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83772739-83772757;83774722-83774727;M1;83774728-83774758 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 1 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 456 | 15 | 1 | SEC31A | O94979 | 3D-structure;-Alternative-splicing;-Chromosomal-rearrangement;Complete-proteome;-Cytoplasm;-Cytoplasmic-vesicle;Endoplasmic-reticulum;-ER-Golgi-transport;-Isopeptide-bond;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Proto-oncogene;Reference-proteome;-Repeat;-Transport;-Ubl-conjugation;-WD-repeat. | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | N->K(indbSNP:rs3797036). | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 57 | 15 | 1 | SEC31A | H0Y8V7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y8V7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 456 | 15 | 1 | SEC31A | D6REX3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6REX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 228 | 15 | 1 | SEC31A | H7BXG7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXG7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 456 | 15 | 1 | SEC31A | D6RHZ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RHZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1663 | mutation | R.SDQLQQAVQSQGFIK:.Y | N | K | 99 | 15 | 1 | SEC31A | H0YAB3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAB3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 83785577-83785580;M1;83785581-83785628 | 1 | 3 | 1 | 1 | 0 | 1 | 1 | 160 | 200 | 40 | -3.900000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.42934371176 |
1945.99827696,5807.84483542 |
0.000000 |
| 1664 | mutation | T.GIVESIGEA:VTTVKPG:DK.V | G | A | 23 | 9 | 1 | ADH7 | E9PFG0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E9PFG0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 100349320-100349331;100349648-100349668;M1;100349669-100349697 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 2 | Unknown | -0.623152684123 |
6770.32220471,5807.84483542 |
0.000000 |
| 1664 | mutation | T.GIVESIGEA:VTTVKPG:DK.V | G | A | 80 | 9 | 1 | ADH7 | A0A0C4DG85 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0C4DG85};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 100349320-100349331;100349648-100349668;M1;100349669-100349697 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 2 | Unknown | -0.623152684123 |
6770.32220471,5807.84483542 |
0.000000 |
| 1664 | mutation | T.GIVESIGEA:VTTVKPG:DK.V | G | A | 23 | 9 | 1 | ADH7 | C9JP14 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:C9JP14};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 100349320-100349331;100349648-100349668;M1;100349669-100349697 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 2 | Unknown | -0.623152684123 |
6770.32220471,5807.84483542 |
0.000000 |
| 1664 | mutation | T.GIVESIGEA:VTTVKPG:DK.V | G | A | 92 | 9 | 1 | ADH7 | P40394 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Metal-binding;-NAD;-Oxidoreductase;Polymorphism;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr4 | 100349320-100349331;100349648-100349668;M1;100349669-100349697 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs1573496). | 1 | 1 | 2 | Unknown | -0.623152684123 |
6770.32220471,5807.84483542 |
0.000000 |
| 1665 | mutation | K.QIDQFAS:EVER.L | N | S | 70 | 7 | 1 | BDH2 | D6R9U8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6R9U8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 104013779-104013795;M1;104013796-104013818 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 16 | 1814 | Unknown | 2.9506176367 |
2303.19137152,5807.84483542 |
2.160964 |
| 1665 | mutation | K.QIDQFAS:EVER.L | N | S | 70 | 7 | 1 | BDH2 | Q9BUT1 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;-NAD;Oxidoreductase;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr4 | 104013779-104013795;M1;104013796-104013818 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs1054707). | 6 | 16 | 1814 | Unknown | 2.9506176367 |
2303.19137152,5807.84483542 |
2.160964 |
| 1665 | mutation | K.QIDQFAS:EVER.L | N | S | 70 | 7 | 1 | BDH2 | D6RIR6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RIR6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 104013779-104013795;M1;104013796-104013818 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 16 | 1814 | Unknown | 2.9506176367 |
2303.19137152,5807.84483542 |
2.160964 |
| 1665 | mutation | K.QIDQFAS:EVER.L | N | S | 70 | 7 | 1 | BDH2 | D6RFG2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RFG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 104013779-104013795;M1;104013796-104013818 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 16 | 1814 | Unknown | 2.9506176367 |
2303.19137152,5807.84483542 |
2.160964 |
| 1667 | mutation | R.DALVNAVVDSLSAYGSTVSNLQHSALMAPS:TLK.L | S | T | 1070 | 31 | 1 | SEC24B | O95487 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Endoplasmic-reticulum;-ER-Golgi-transport;-Golgi-apparatus;Membrane;-Phosphoprotein;-Polymorphism;-Protein-transport;Reference-proteome;-Transport. | Intracellular | Atlas | chr4 | 110451482-110451575;M1;110451576-110451587 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 11 | Unknown | 0.896822962826 |
4816.28089258,5807.84483542 |
0.000000 |
| 1668 | mutation | K.SYIEVSHGLGHVPQQNGFSG:ASETANIQR.M | T | A | 525 | 21 | 1 | SYNPO2 | H0Y9Y3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9Y3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 119951583-119951646;M1;119951647-119951676 | 1 | 9 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 50 | 589 | Unknown | 0.526302164549 |
5070.55933546,5807.84483542 |
1.000000 |
| 1668 | mutation | K.SYIEVSHGLGHVPQQNGFSG:ASETANIQR.M | T | A | 573 | 21 | 1 | SYNPO2 | Q9UMS6 | Actin-binding;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr4 | 119951583-119951646;M1;119951647-119951676 | 1 | 9 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs7698598). | 1 | 50 | 589 | Unknown | 0.526302164549 |
5070.55933546,5807.84483542 |
1.000000 |
| 1669 | mutation | R.SVLSIQ:QQHTNPGAFGK.S | R | Q | 209 | 6 | 2 | NUDT6 | P53370 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Hydrolase;-Isopeptide-bond;-Mitochondrion;-Nucleus;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr4 | 123814270-123814307;M1;123814308-123814327 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs1048201). | 3 | 20 | 1274 | Unknown | -0.169198866856 |
5834.1153824,5807.84483542 |
0.000000 |
| 1670 | mutation | K.LLS:DTDDLIL:ENFYDK.T | A | S | 160 | 3 | 1 | CLGN | D6RAZ4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|RuleBase:RU362126};Proteomics-identification-{ECO:0000213|EPD:D6RAZ4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 141321682-141321703;141323138-141323161;M1;141323162-141323171 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 8 | 428 | Unknown | 1.08586427238 |
4344.01129807,5807.84483542 |
1.584963 |
| 1670 | mutation | K.LLS:DTDDLIL:ENFYDK.T | A | S | 160 | 3 | 1 | CLGN | O14967 | Alternative-splicing;-Calcium;-Chaperone;-Complete-proteome;Disulfide-bond;-Endoplasmic-reticulum;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr4 | 141321682-141321703;141323138-141323161;M1;141323162-141323171 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | A->S(indbSNP:rs2567241). | 3 | 8 | 428 | Lumenal | 1.08586427238 |
4344.01129807,5807.84483542 |
1.584963 |
| 1671 | mutation | R.FVC:NPLGSTHPEATLK.T | R | C | 1997 | 3 | 1 | LRBA | P50851 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-membrane;Coiled-coil;-Complete-proteome;-Disease-mutation;Endoplasmic-reticulum;-Golgi-apparatus;-Lysosome;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;Transmembrane;-Transmembrane-helix;-WD-repeat. | Membrane-Bound | Atlas | chr4 | 151520171-151520215;M1;151520216-151520225 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs35879351). | 3 | 5 | 315 | Intra-Cellular-Peptide | 1.89546729985 |
3627.87046157,5807.84483542 |
0.000000 |
| 1671 | mutation | R.FVC:NPLGSTHPEATLK.T | R | C | 1997 | 3 | 1 | LRBA | E9PEM5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PEM5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 151520171-151520215;M1;151520216-151520225 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 5 | 315 | Unknown | 1.89546729985 |
3627.87046157,5807.84483542 |
0.000000 |
| 1671 | mutation | R.FVC:NPLGSTHPEATLK.T | R | C | 650 | 3 | 1 | LRBA | H0YAC6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAC6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 151520171-151520215;M1;151520216-151520225 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 3 | 5 | 315 | Unknown | 1.89546729985 |
3627.87046157,5807.84483542 |
0.000000 |
| 1672 | mutation | R.NSVDELNN:DVEAVSQTSSSSFQYMYLLK.D | N | D | 133 | 9 | 1 | FGB | P02675 | 3D-structure;-Adaptive-immunity;-Blood-coagulation;-Coiled-coil;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Glycoprotein;-Hemostasis;-Immunity;-Innate-immunity;Polymorphism;-Pyrrolidone-carboxylic-acid;-Reference-proteome; | Intracellular | Atlas | chr4 | 155487703-155487730;M1;155487731-155487793 | 2 | 15 | 143 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 78 | 1 | 1 | Unknown | 7.10972464711 |
503.22113834,5807.84483542 |
0.000000 |
| 1673 | mutation | K.ASTPNGYDI:GIIWATWK.T | N | I | 391 | 9 | 1 | FGG | P02679 | 3D-structure;-Alternative-splicing;-Blood-coagulation;-Calcium;Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Hemostasis;Isopeptide-bond;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr4 | 155526147-155526175;M1;155526176-155526204 | 1 | 3 | 15 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 33 | 1 | 1 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0.000000 |
| 1673 | mutation | K.ASTPNGYDI:GIIWATWK.T | N | I | 399 | 9 | 1 | FGG | C9JC84 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00425769};Proteomics-identification-{ECO:0000213|MaxQB:C9JC84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 155526147-155526175;M1;155526176-155526204 | 1 | 3 | 15 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 33 | 1 | 1 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0.000000 |
| 1673 | mutation | K.ASTPNGYDI:GIIWATWK.T | N | I | 399 | 9 | 1 | FGG | C9JEU5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00425769};Proteomics-identification-{ECO:0000213|MaxQB:C9JEU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 155526147-155526175;M1;155526176-155526204 | 1 | 3 | 15 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 33 | 1 | 1 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0.000000 |
| 1674 | mutation | K.EHDVQNTFEEM:EK.H | L | M | 70 | 11 | 1 | CBR4 | Q8N4T8 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Fatty-acid-biosynthesis;-Fatty-acid-metabolism;-Lipid-biosynthesis;Lipid-metabolism;-Mitochondrion;-NAD;-NADP;-Oxidoreductase;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr4 | 169928830-169928841;M1;169928842-169928875 | 2 | 1 | 71 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | L->M(indbSNP:rs2877380). | 27 | 63 | 2756 | Unknown | 2.37437075972 |
2962.0746061,5807.84483542 |
2.576609 |
| 1674 | mutation | K.EHDVQNTFEEM:EK.H | L | M | 67 | 11 | 1 | CBR4 | H0Y962 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y962,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 169928830-169928841;M1;169928842-169928875 | 2 | 1 | 71 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 27 | 63 | 2756 | Unknown | 2.37437075972 |
2962.0746061,5807.84483542 |
2.576609 |
| 1675 | mutation | Q.SMGFINEDLSTS:ASQALHSDWLAR.N | T | S | 48 | 12 | 1 | AGA | H0Y8L9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H0Y8L9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 178359919-178359959;M1;178359960-178359997 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 85 | 5756 | Unknown | -0.561951414875 |
6304.69506131,5807.84483542 |
1.764971 |
| 1675 | mutation | Q.SMGFINEDLSTS:ASQALHSDWLAR.N | T | S | 149 | 12 | 1 | AGA | P20933 | 3D-structure;-Autocatalytic-cleavage;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hydrolase;-Lysosome;-Polymorphism;-Protease;Reference-proteome;-Signal. | Intracellular | Atlas | chr4 | 178359919-178359959;M1;178359960-178359997 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs2228119). | 3 | 85 | 5756 | Unknown | -0.561951414875 |
6304.69506131,5807.84483542 |
1.764971 |
| 1675 | mutation | Q.SMGFINEDLSTS:ASQALHSDWLAR.N | T | S | 34 | 12 | 1 | AGA | H0Y9C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y9C7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 178359919-178359959;M1;178359960-178359997 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 85 | 5756 | Unknown | -0.561951414875 |
6304.69506131,5807.84483542 |
1.764971 |
| 1676 | mutation | K.THP:VEVFEPGAEHIVR.L | I | V | 1034 | 4 | 1 | CHL1 | O00533 | Alternative-splicing;-Cell-adhesion;-Cell-membrane;-Complete-proteome;Developmental-protein;-Differentiation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Immunoglobulin-domain;-Membrane;Neurogenesis;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr3 | 439950-439962;M1;439963-440004 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs6442827). | 3 | 59 | 2236 | Targetable | -0.145070347529 |
5925.01663135,5807.84483542 |
2.230757 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | E7EUJ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E7EUJ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | F8W708 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W708,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | A0A096LP98 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A096LP98,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 28 | 1 | 1 | VGLL4 | E7ERW0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ERW0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | E7EWF5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EWF5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | E7EQU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 32 | 1 | 1 | VGLL4 | A0A075B6E4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B6E4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 38 | 1 | 1 | VGLL4 | G5E9M7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G5E9M7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 37 | 1 | 1 | VGLL4 | F8WBN7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:F8WBN7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1677 | mutation | R.M:QTLPVASALSSHR.T | I | M | 37 | 1 | 1 | VGLL4 | A0A0A6YYI5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A6YYI5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 11643422-11643464;M1;11643465-11643470 | 1 | 1 | 7 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 20 | 84 | 18711 | Unknown | 0.426244808605 |
5371.97334397,5807.84483542 |
0.000000 |
| 1678 | mutation | K.LQLLNPEIEAEQILMSPD:SYIK.L | N | D | 1303 | 18 | 1 | NUP210 | Q8TEM1 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Glycoprotein;-Membrane;-mRNA-transport;-Nuclear-pore-complex;-Nucleus;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Signal;-Translocation;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr3 | 13373803-13373820;M1;13373821-13373875 | 1 | 0 | 4 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 53 | Lumenal | 2.08101028932 |
3423.36253818,5807.84483542 |
0.000000 |
| 1679 | mutation | R.PVLASIEA:ELPMQLVSQDDESGQK.K | P | A | 821 | 8 | 1 | NUP210 | Q8TEM1 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Glycoprotein;-Membrane;-mRNA-transport;-Nuclear-pore-complex;-Nucleus;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Signal;-Translocation;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr3 | 13395421-13395474;M1;13395475-13395499 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs2280085). | 3 | 25 | 1853 | Lumenal | 2.08101028932 |
3423.36253818,5807.84483542 |
1.861654 |
| 1680 | mutation | R.LTLV:PVYTSPQLDMSCPLLQQNK.Q | A | V | 755 | 4 | 1 | NUP210 | Q8TEM1 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Glycoprotein;-Membrane;-mRNA-transport;-Nuclear-pore-complex;-Nucleus;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Signal;-Translocation;-Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr3 | 13399724-13399785;M1;13399786-13399799 | 2 | 1 | 64 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs6795271). | 63 | 40 | 4001 | Lumenal | 2.08101028932 |
3423.36253818,5807.84483542 |
2.110521 |
| 1681 | mutation | R.GYHASDDG:AK.C | T | A | 854 | 9 | 1 | FBLN2 | P98095 | Alternative-splicing;-Calcium;-Complete-proteome;-Disulfide-bond;EGF-like-domain;-Extracellular-matrix;-Glycoprotein;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr3 | 13670508-13670535;M1;13670536-13670544 | 1 | 2 | 19 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs9843344). | 48 | 70 | 5555 | Unknown | 2.20216251027 |
3159.524291,5807.84483542 |
2.086362 |
| 1682 | mutation | R.GQGQSVQMSGAV:K.Q | I | V | 696 | 12 | 1 | TBC1D5 | Q92609 | Alternative-splicing;-Autophagy;-Complete-proteome;Cytoplasmic-vesicle;-Endosome;-GTPase-activation;-Membrane;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr3 | 17208258-17208266;M1;17208267-17208303 | 2 | 0 | 26 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1138454). | 21 | 35 | 2780 | Unknown | 1.93487929578 |
3593.36199308,5807.84483542 |
1.000000 |
| 1683 | mutation | K.D:LVHAIESLPGSGPLTALDQDLLLLK.A | N | D | 254 | 1 | 1 | OSBPL10 | Q9BXB5 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Lipid-biosynthesis;-Lipid-metabolism;-Lipid-transport;Lipid-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr3 | 31789501-31789581;M1;31789582-31789585 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | N->D(indbSNP:rs2290532). | 1 | 39 | 2236 | Unknown | 0.136623464826 |
5801.05051229,5807.84483542 |
1.440643 |
| 1683 | mutation | K.D:LVHAIESLPGSGPLTALDQDLLLLK.A | N | D | 62 | 1 | 1 | OSBPL10 | H7C199 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C199,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 31789501-31789581;M1;31789582-31789585 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 39 | 2236 | Unknown | 0.136623464826 |
5801.05051229,5807.84483542 |
1.440643 |
| 1683 | mutation | K.D:LVHAIESLPGSGPLTALDQDLLLLK.A | N | D | 23 | 1 | 1 | OSBPL10 | H7C487 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lipid-transport-{ECO:0000256|RuleBase:RU003845};Proteomics-identification-{ECO:0000213|EPD:H7C487,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 31789501-31789581;M1;31789582-31789585 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 39 | 2236 | Unknown | 0.136623464826 |
5801.05051229,5807.84483542 |
1.440643 |
| 1684 | mutation | R.EPSAPSIPTPAYQS:LPAGGHAPTPPTPAPR.T | S | L | 730 | 15 | 1 | PDCD6IP | Q8WUM4 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Cell-cycle;-Cell-division;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Host-virus-interaction;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Secreted; | Intracellular | Atlas | chr3 | 33905519-33905565;M1;33905566-33905615 | 2 | 2 | 6 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs1127732). | 1 | 19 | 4635 | Unknown | 4.32805102252 |
1232.15029437,5807.84483542 |
0.000000 |
| 1685 | mutation | R.EEAAGPALALSLIEH:YEPSETA:K.A | R | H | 257 | 15 | 1 | PLCD1 | P51178 | Alternative-splicing;-Calcium;-Complete-proteome;-Disease-mutation;Glycoprotein;-Hydrolase;-Lipid-degradation;-Lipid-metabolism;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr3 | 38052045-38052053;38052704-38052724;M1;38052725-38052771 | 1 | 2 | 3 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs933135). | 3 | 5 | 398 | Unknown | 1.19076019873 |
4409.27894305,5807.84483542 |
5.906891 |
| 1686 | mutation | -.TFAEAAGSGETLSVN:QLVTFLQHQQR.E | D | N | 231 | 14 | 1 | PLCD1 | P51178 | Alternative-splicing;-Calcium;-Complete-proteome;-Disease-mutation;Glycoprotein;-Hydrolase;-Lipid-degradation;-Lipid-metabolism;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr3 | 38052765-38052803;M1;38052804-38052846 | 1 | 2 | 1 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 12 | 3 | 102 | Unknown | 1.19076019873 |
4409.27894305,5807.84483542 |
0.000000 |
| 1687 | mutation | R.SKAEELGLPILGI:LR.S | V | I | 303 | 13 | 1 | ACAA1 | P09110 | 3D-structure;-Acyltransferase;-Alternative-splicing;Complete-proteome;-Fatty-acid-metabolism;-Lipid-metabolism;Peroxisome;-Phosphoprotein;-Polymorphism;-Reference-proteome;Transferase;-Transit-peptide. | Intracellular | Atlas | chr3 | 38167731-38167742;M1;38167743-38167782 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 114 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0 |
| 1687 | mutation | R.SKAEELGLPILGI:LR.S | V | I | 262 | 13 | 1 | ACAA1 | C9JDE9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JDE9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 38167731-38167742;M1;38167743-38167782 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 114 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0 |
| 1687 | mutation | R.SKAEELGLPILGI:LR.S | V | I | 193 | 13 | 1 | ACAA1 | H7C131 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C131,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 38167731-38167742;M1;38167743-38167782 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 114 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0 |
| 1688 | mutation | K.GCFQAEIVPVTTTVQ:DDK.G | H | Q | 104 | 15 | 1 | ACAA1 | H0Y4D4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4D4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 38168112-38168124;M1;38168125-38168172 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 4 | 8 | 1264 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0.000000 |
| 1688 | mutation | K.GCFQAEIVPVTTTVQ:DDK.G | H | Q | 231 | 15 | 1 | ACAA1 | P09110 | 3D-structure;-Acyltransferase;-Alternative-splicing;Complete-proteome;-Fatty-acid-metabolism;-Lipid-metabolism;Peroxisome;-Phosphoprotein;-Polymorphism;-Reference-proteome;Transferase;-Transit-peptide. | Intracellular | Atlas | chr3 | 38168112-38168124;M1;38168125-38168172 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 4 | 8 | 1264 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0.000000 |
| 1688 | mutation | K.GCFQAEIVPVTTTVQ:DDK.G | H | Q | 190 | 15 | 1 | ACAA1 | C9JDE9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JDE9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 38168112-38168124;M1;38168125-38168172 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 4 | 8 | 1264 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0.000000 |
| 1688 | mutation | K.GCFQAEIVPVTTTVQ:DDK.G | H | Q | 121 | 15 | 1 | ACAA1 | H7C131 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C131,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 38168112-38168124;M1;38168125-38168172 | 2 | 3 | 13 | 1 | 0 | 0 | 0 | 195 | 180 | -15 | -3.500000 | Hydrophilic;0.200000 | - | 4 | 8 | 1264 | Unknown | 3.48522526759 |
1848.50683058,5807.84483542 |
0.000000 |
| 1689 | mutation | K.VLHASLQSV:LHK.E | V | L | 274 | 10 | 1 | EXOSC7 | Q15024 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Exosome;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-RNA-binding;-rRNA-processing. | Intracellular | Atlas | chr3 | 45052744-45052774;M1;45052775-45052786 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs6794). | 3 | 64 | 8505 | Unknown | 2.05885035885 |
3314.33212074,5807.84483542 |
1.846793 |
| 1690 | mutation | R.GGTL:STPQTGSENDALYEYLR.Q | G | S | 106 | 5 | 1 | CLEC3B | P05452 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Lectin;-Polymorphism;Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr3 | 45077107-45077122;M1;45077123-45077176 | 2 | 6 | 71 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs13963). | 72 | 48 | 925 | Unknown | 3.69463500608 |
1639.82311057,5807.84483542 |
2.192706 |
| 1690 | mutation | R.GGTL:STPQTGSENDALYEYLR.Q | G | S | 64 | 5 | 1 | CLEC3B | E9PHK0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00591625};Proteomics-identification-{ECO:0000213|EPD:E9PHK0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 45077107-45077122;M1;45077123-45077176 | 2 | 6 | 71 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 72 | 48 | 925 | Unknown | 3.69463500608 |
1639.82311057,5807.84483542 |
2.192706 |
| 1691 | mutation | K.ELQTCLQA:LELGAAEKEEDYHTALR.R | G | A | 321 | 8 | 1 | FYCO1 | Q9BQS8 | 3D-structure;-Acetylation;-Alternative-splicing;-Cataract;Coiled-coil;-Complete-proteome;-Cytoplasmic-vesicle;-Disease-mutation;Endosome;-Lysosome;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr3 | 46009808-46009863;M1;46009864-46009889 | 2 | 11 | 8 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs3733100). | 12 | 44 | 1090 | Unknown | 0.799561074185 |
4999.62807636,5807.84483542 |
2.698962 |
| 1692 | mutation | R.SVQWCT:VSQPEATK.C | A | T | 40 | 6 | 1 | LTF | C9JCF5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:C9JCF5};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 46501238-46501267;M1;46501268-46501286 | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 24 | 878 | Unknown | 3.68973214385 |
1570.28929662,5807.84483542 |
1.000000 |
| 1692 | mutation | R.SVQWCT:VSQPEATK.C | A | T | 29 | 6 | 1 | LTF | E7ER44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ER44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 46501238-46501267;M1;46501268-46501286 | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 24 | 878 | Unknown | 3.68973214385 |
1570.28929662,5807.84483542 |
1.000000 |
| 1692 | mutation | R.SVQWCT:VSQPEATK.C | A | T | 16 | 6 | 1 | LTF | E7EQB2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQB2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 46501238-46501267;M1;46501268-46501286 | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 24 | 878 | Unknown | 3.68973214385 |
1570.28929662,5807.84483542 |
1.000000 |
| 1692 | mutation | R.SVQWCT:VSQPEATK.C | A | T | 29 | 6 | 1 | LTF | P02788 | 3D-structure;-Alternative-promoter-usage;-Antibiotic;-Antimicrobial;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disulfide-bond;-DNA-binding;-Glycoprotein;-Heparin-binding;-Hydrolase;Immunity;-Ion-transport;-Iron;-Iron-transport;-Metal-binding;-Nucleus;Osteogenesis;-Phosphoprotein;-Polymorphism;-Protease;Reference-proteome;-Repeat;-Secreted;-Serine-protease;-Signal;Transcription;-Transcription-regulation;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr3 | 46501238-46501267;M1;46501268-46501286 | 2 | 1 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1126477). | 3 | 24 | 878 | Unknown | 3.68973214385 |
1570.28929662,5807.84483542 |
1.000000 |
| 1693 | mutation | K.VALSSQ:TEVALAR.D | E | Q | 441 | 6 | 1 | MAP4 | P27816 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Isopeptide-bond;-Microtubule;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr3 | 47957969-47957995;M1;47957996-47958014 | 2 | 23 | 8 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | E->Q(indbSNP:rs2230169). | 18 | 6 | 1396 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0.000000 |
| 1693 | mutation | K.VALSSQ:TEVALAR.D | E | Q | 458 | 6 | 1 | MAP4 | E7EVA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVA0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 47957969-47957995;M1;47957996-47958014 | 2 | 23 | 8 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 18 | 6 | 1396 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0.000000 |
| 1694 | mutation | L.SEIEVAQANDIISY:TEISSAEK.V | S | Y | 427 | 14 | 1 | MAP4 | P27816 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Isopeptide-bond;-Microtubule;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr3 | 47958008-47958036;M1;47958037-47958080 | 2 | 23 | 66 | 1 | 0 | 0 | 0 | 115 | 230 | 115 | -1.300000 | -2.300000 | S->Y(indbSNP:rs1060407). | 6 | 30 | 5865 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0.000000 |
| 1694 | mutation | L.SEIEVAQANDIISY:TEISSAEK.V | S | Y | 444 | 14 | 1 | MAP4 | E7EVA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVA0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 47958008-47958036;M1;47958037-47958080 | 2 | 23 | 66 | 1 | 0 | 0 | 0 | 115 | 230 | 115 | -1.300000 | -2.300000 | - | 6 | 30 | 5865 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
0.000000 |
| 1695 | mutation | K.Q:DFIATLEAEAFDDVVGETVGK.T | R | Q | 23 | 1 | 1 | MAP4 | P27816 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Isopeptide-bond;-Microtubule;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr3 | 48040215-48040282;M1;48040283-48040287 | 1 | 1 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs11711953). | 1 | 6 | 971 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
1.916993 |
| 1695 | mutation | K.Q:DFIATLEAEAFDDVVGETVGK.T | R | Q | 23 | 1 | 1 | MAP4 | E7EVA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVA0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 48040215-48040282;M1;48040283-48040287 | 1 | 1 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 6 | 971 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
1.916993 |
| 1695 | mutation | K.Q:DFIATLEAEAFDDVVGETVGK.T | R | Q | 23 | 1 | 1 | MAP4 | A0A0J9YW37 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YW37,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 48040215-48040282;M1;48040283-48040287 | 1 | 1 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 6 | 971 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
1.916993 |
| 1695 | mutation | K.Q:DFIATLEAEAFDDVVGETVGK.T | R | Q | 23 | 1 | 1 | MAP4 | A0A0J9YVV8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0J9YVV8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 48040215-48040282;M1;48040283-48040287 | 1 | 1 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 6 | 971 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
1.916993 |
| 1695 | mutation | K.Q:DFIATLEAEAFDDVVGETVGK.T | R | Q | 23 | 1 | 1 | MAP4 | H7C456 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C456,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 48040215-48040282;M1;48040283-48040287 | 1 | 1 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 6 | 971 | Unknown | 3.61098420352 |
1784.56088959,5807.84483542 |
1.916993 |
| 1696 | mutation | K.HLGGIPWTYAEDAVPTLTPCH:FTGSE:IR.H | R | H | 269 | 21 | 1 | UQCRC1 | P31930 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Electron-transport;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Respiratory-chain;-Transit-peptide;-Transport. | Intracellular | Atlas | chr3 | 48638542-48638551;48638784-48638800;M1;48638801-48638865 | 2 | 1 | 12 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 3 | 750 | Unknown | 4.98184835463 |
904.726144037,5807.84483542 |
0.000000 |
| 1697 | mutation | K.AQ:HGFCGIPITDTGR.M | R | Q | 136 | 2 | 1 | IMPDH2 | P12268 | 3D-structure;-Acetylation;-CBS-domain;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-DNA-binding;-GMP-biosynthesis;Metal-binding;-NAD;-Nucleus;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Potassium;-Purine-biosynthesis;-Reference-proteome; | Intracellular | Atlas | chr3 | 49065223-49065266;M1;49065267-49065274 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.40800875796 |
1176.23633304,5807.84483542 |
0.000000 |
| 1697 | mutation | K.AQ:HGFCGIPITDTGR.M | R | Q | 68 | 2 | 1 | IMPDH2 | H0Y4R1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4R1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 49065223-49065266;M1;49065267-49065274 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.40800875796 |
1176.23633304,5807.84483542 |
0.000000 |
| 1697 | mutation | K.AQ:HGFCGIPITDTGR.M | R | Q | 111 | 2 | 1 | IMPDH2 | E7ETK5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ETK5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 49065223-49065266;M1;49065267-49065274 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.40800875796 |
1176.23633304,5807.84483542 |
0.000000 |
| 1699 | mutation | K.TTGIVETHF:PFK.D | T | P | 191 | 10 | 1 | GNAI2 | P04899 | ADP-ribosylation;-Alternative-splicing;-Cell-cycle;-Cell-division;Cell-membrane;-Complete-proteome;-Cytoplasm;-Cytoskeleton;GTP-binding;-Lipoprotein;-Magnesium;-Membrane;-Metal-binding;Myristate;-Nucleotide-binding;-Palmitate;-Reference-proteome; | Intracellular | Atlas | chr3 | 50293699-50293729;M1;50293730-50293741 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 9 | 1 | 250 | Unknown | 4.41430280247 |
1182.26024788,5807.84483542 |
0.000000 |
| 1702 | mutation | K.VTIGLLFWDGH:GEGLR.L | R | H | 858 | 11 | 2 | ITIH4 | B7ZKJ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7ZKJ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 52848273-52848292;M1;52848293-52848327 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 31 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
0.000000 |
| 1702 | mutation | K.VTIGLLFWDGH:GEGLR.L | R | H | 853 | 11 | 2 | ITIH4 | Q14624 | Acute-phase;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr3 | 52848273-52848292;M1;52848293-52848327 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 31 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
0.000000 |
| 1702 | mutation | K.VTIGLLFWDGH:GEGLR.L | R | H | 642 | 11 | 2 | ITIH4 | H7C0L5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0L5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 52848273-52848292;M1;52848293-52848327 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 3 | 1 | 31 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
0.000000 |
| 1703 | mutation | R.L:LGLPGPPDVPDHAAYHPFR.R | Q | L | 674 | 1 | 2 | ITIH4 | B7ZKJ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B7ZKJ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 52853418-52853479;M1;52853480-52853484 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 4 | 61 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
1.000000 |
| 1703 | mutation | R.L:LGLPGPPDVPDHAAYHPFR.R | Q | L | 669 | 1 | 2 | ITIH4 | Q14624 | Acute-phase;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Polymorphism;Protease-inhibitor;-Reference-proteome;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr3 | 52853418-52853479;M1;52853480-52853484 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | Q->L(indbSNP:rs2276814). | 3 | 4 | 61 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
1.000000 |
| 1703 | mutation | R.L:LGLPGPPDVPDHAAYHPFR.R | Q | L | 497 | 1 | 2 | ITIH4 | H7C0L5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0L5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 52853418-52853479;M1;52853480-52853484 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 180 | 170 | -10 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 4 | 61 | Unknown | 3.75418460657 |
1614.29536893,5807.84483542 |
1.000000 |
| 1704 | mutation | R.ILTVEDHD:YEG:GIGEAVSSAVVGEPGITVTHLAVNR.- | Y | D | 397 | 8 | 1 | TKT | A0A0B4J1R6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0B4J1R6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 53259870-53259947;53260771-53260780;M1;53260781-53260805 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 230 | 150 | -80 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0.000000 |
| 1704 | mutation | R.ILTVEDHD:YEG:GIGEAVSSAVVGEPGITVTHLAVNR.- | Y | D | 563 | 8 | 1 | TKT | P29401 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Magnesium;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Thiamine-pyrophosphate;-Transferase. | Intracellular | Atlas | chr3 | 53259870-53259947;53260771-53260780;M1;53260781-53260805 | 1 | 5 | 1 | 1 | 0 | -1 | -1 | 230 | 150 | -80 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0.000000 |
| 1705 | mutation | R.P:VPFCSTFAAFFTR.A | T | P | 216 | 1 | 1 | TKT | A0A0B4J1R6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0B4J1R6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 53263371-53263415;M1;53263416-53263419 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 3 | 1 | 249 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0.000000 |
| 1705 | mutation | R.P:VPFCSTFAAFFTR.A | T | P | 382 | 1 | 1 | TKT | P29401 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Magnesium;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Thiamine-pyrophosphate;-Transferase. | Intracellular | Atlas | chr3 | 53263371-53263415;M1;53263416-53263419 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 3 | 1 | 249 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0.000000 |
| 1706 | mutation | R.VYCLLGDGELSEGSI:WEAMAFASIYK.- | V | I | 163 | 15 | 1 | TKT | E9PFF2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PFF2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 53269105-53269140;M1;53269141-53269186 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 173 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0 |
| 1706 | mutation | R.VYCLLGDGELSEGSI:WEAMAFASIYK.- | V | I | 163 | 15 | 1 | TKT | P29401 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Magnesium;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Thiamine-pyrophosphate;-Transferase. | Intracellular | Atlas | chr3 | 53269105-53269140;M1;53269141-53269186 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 173 | Unknown | 5.45650612604 |
740.114055525,5807.84483542 |
0 |
| 1707 | mutation | R.PNQASSEGQFVVLSSSQSEESDLG:GGGK.K | E | G | 700 | 25 | 2 | APPL1 | Q9UKG1 | 3D-structure;-Cell-cycle;-Coiled-coil;-Complete-proteome;Diabetes-mellitus;-Disease-mutation;-Endosome;-Membrane;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr3 | 57303607-57303683;M1;57303684-57303697 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 75 | -115 | -0.400000 | 0.000000 | E->G(indbSNP:rs11544593). | 6 | 18 | 868 | Unknown | 3.05285578019 |
2309.44784462,5807.84483542 |
1.872963 |
| 1708 | mutation | K.IAGPGLGSGV:QAR.V | R | Q | 1267 | 11 | 1 | FLNB | E7EN95 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EN95,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58116517-58116551;M1;58116552-58116562 | 1 | 6 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.39271261691 |
1188.08727396,5807.84483542 |
1.584963 |
| 1708 | mutation | K.IAGPGLGSGV:QAR.V | R | Q | 1436 | 11 | 1 | FLNB | O75369 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Developmental-protein;Differentiation;-Disease-mutation;-Dwarfism;-Isopeptide-bond;Myogenesis;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr3 | 58116517-58116551;M1;58116552-58116562 | 1 | 6 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 250 | Unknown | 4.39271261691 |
1188.08727396,5807.84483542 |
1.584963 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 464 | 12 | 1 | PXK | H7BYG4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BYG4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 174 | 12 | 1 | PXK | U3KQS4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:U3KQS4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 481 | 12 | 1 | PXK | Q7Z7A4 | Actin-binding;-Alternative-splicing;-Cell-membrane;-Complete-proteome;Cytoplasm;-Membrane;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs56384862). | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 17 | 12 | 1 | PXK | H7C529 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C529,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 236 | 12 | 1 | PXK | H7C4V0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4V0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 464 | 12 | 1 | PXK | A0A0C4DG95 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG95,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 481 | 12 | 1 | PXK | W5RWE6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:W5RWE6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 53 | 12 | 1 | PXK | H7C4W2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4W2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1709 | mutation | R.SALENSEEHSA:R.Y | K | R | 448 | 12 | 1 | PXK | E9PD56 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PD56,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 58395825-58395862;M1;58395863-58395867 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 3 | 43 | 4366 | Unknown | -0.811024302717 |
6800.04987876,5807.84483542 |
2.199330 |
| 1710 | mutation | K.NT:GENEGGIDK.F | I | T | 18 | 2 | 1 | GBE1 | E9PGM4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGM4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 81754700-81754731;M1;81754732-81754739 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 1 | 15 | Unknown | 2.61794193466 |
2749.51290466,5807.84483542 |
0.000000 |
| 1710 | mutation | K.NT:GENEGGIDK.F | I | T | 59 | 2 | 1 | GBE1 | Q04446 | 3D-structure;-Acetylation;-Complete-proteome;-Disease-mutation;Glycogen-biosynthesis;-Glycogen-storage-disease;-Glycosyltransferase;Neuropathy;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr3 | 81754700-81754731;M1;81754732-81754739 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 1 | 15 | Unknown | 2.61794193466 |
2749.51290466,5807.84483542 |
0.000000 |
| 1711 | mutation | K.WIFQICPATETIVENLKPD:TVYEFGVK.D | N | D | 134 | 19 | 1 | ABI3BP | E9PPR9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:E9PPR9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 100605040-100605069;M1;100605070-100605127 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 24 | Unknown | -2.38559822044 |
7858.24935691,5807.84483542 |
0.000000 |
| 1711 | mutation | K.WIFQICPATETIVENLKPD:TVYEFGVK.D | N | D | 194 | 19 | 1 | ABI3BP | D3YTG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D3YTG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 100605040-100605069;M1;100605070-100605127 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 24 | Unknown | -2.38559822044 |
7858.24935691,5807.84483542 |
0.000000 |
| 1711 | mutation | K.WIFQICPATETIVENLKPD:TVYEFGVK.D | N | D | 113 | 19 | 1 | ABI3BP | H0YEA0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:H0YEA0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 100605040-100605069;M1;100605070-100605127 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 24 | Unknown | -2.38559822044 |
7858.24935691,5807.84483542 |
0.000000 |
| 1711 | mutation | K.WIFQICPATETIVENLKPD:TVYEFGVK.D | N | D | 194 | 19 | 1 | ABI3BP | Q7Z7G0 | Alternative-splicing;-Complete-proteome;-Glycoprotein;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr3 | 100605040-100605069;M1;100605070-100605127 | 1 | 0 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 24 | Unknown | -2.38559822044 |
7858.24935691,5807.84483542 |
0.000000 |
| 1712 | mutation | K.NEST:RPSEELELDK.W | P | R | 56 | 5 | 1 | TRMT10C | C9JVB6 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JVB6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 101283775-101283791;M1;101283792-101283823 | 2 | 18 | 15 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | - | 41 | 24 | 4660 | Unknown | 3.78573131468 |
1609.92398774,5807.84483542 |
1.404974 |
| 1712 | mutation | K.NEST:RPSEELELDK.W | P | R | 56 | 5 | 1 | TRMT10C | Q7L0Y3 | Coiled-coil;-Complete-proteome;-Methyltransferase;-Mitochondrion;Mitochondrion-nucleoid;-Phosphoprotein;-Polymorphism;Reference-proteome;-S-adenosyl-L-methionine;-Transferase;Transit-peptide;-tRNA-processing. | Intracellular | Atlas | chr3 | 101283775-101283791;M1;101283792-101283823 | 2 | 18 | 15 | 1 | 0 | 1 | 1 | 145 | 225 | 80 | -4.500000 | Hydrophilic;3.000000 | P->R(indbSNP:rs3762735). | 41 | 24 | 4660 | Unknown | 3.78573131468 |
1609.92398774,5807.84483542 |
1.404974 |
| 1713 | mutation | R.LISGVSRPDEVLEF:IER.G | C | F | 263 | 14 | 1 | QTRTD1 | Q9H974 | Alternative-splicing;-Complete-proteome;-Cytoplasm;Glycosyltransferase;-Metal-binding;-Mitochondrion;Queuosine-biosynthesis;-Reference-proteome;-Transferase;tRNA-processing;-Zinc. | Intracellular | Atlas | chr3 | 113795787-113795789;113798752-113798793;M1;113798794-113798807 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 135 | 210 | 75 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 1 | 21 | Unknown | 1.56837779519 |
4001.68709059,5807.84483542 |
0.000000 |
| 1714 | mutation | R.TLEGLQVEEEPVYK:.A | E | K | 361 | 14 | 1 | HCLS1 | P14317 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Membrane;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-SH3-domain. | Intracellular | Atlas | chr3 | 121351332-121351337;M1;121351338-121351380 | 2 | 0 | 57 | 1 | -1 | 1 | 2 | 190 | 200 | 10 | -3.900000 | Hydrophilic;3.000000 | E->K(indbSNP:rs2070180). | 1 | 26 | 2036 | Unknown | 3.06177607542 |
2265.85913008,5807.84483542 |
3.136434 |
| 1714 | mutation | R.TLEGLQVEEEPVYK:.A | E | K | 324 | 14 | 1 | HCLS1 | E7EVW7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVW7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}. | Intracellular | Atlas | chr3 | 121351332-121351337;M1;121351338-121351380 | 2 | 0 | 57 | 1 | -1 | 1 | 2 | 190 | 200 | 10 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 26 | 2036 | Unknown | 3.06177607542 |
2265.85913008,5807.84483542 |
3.136434 |
| 1715 | mutation | K.LS:STDQQESCSSTPGLEEPLFK.A | P | S | 1249 | 2 | 1 | GOLGB1 | Q14789 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Golgi-apparatus;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr3 | 121415544-121415609;M1;121415610-121415616 | 2 | 30 | 24 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs33988592). | 1 | 27 | 1014 | Lumenal | 2.40053843093 |
3022.69721968,5807.84483542 |
1.469361 |
| 1715 | mutation | K.LS:STDQQESCSSTPGLEEPLFK.A | P | S | 1213 | 2 | 1 | GOLGB1 | E7EU81 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EU81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 121415544-121415609;M1;121415610-121415616 | 2 | 30 | 24 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 27 | 1014 | Unknown | 2.40053843093 |
3022.69721968,5807.84483542 |
1.469361 |
| 1716 | mutation | K.DQQVTEISFSMS:EK.M | T | S | 782 | 12 | 1 | GOLGB1 | H0Y867 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y867,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 121416612-121416622;M1;121416623-121416660 | 1 | 31 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 29 | 1014 | Unknown | 2.40053843093 |
3022.69721968,5807.84483542 |
1.264160 |
| 1716 | mutation | K.DQQVTEISFSMS:EK.M | T | S | 911 | 12 | 1 | GOLGB1 | Q14789 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Golgi-apparatus;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr3 | 121416612-121416622;M1;121416623-121416660 | 1 | 31 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs3732407). | 6 | 29 | 1014 | Lumenal | 2.40053843093 |
3022.69721968,5807.84483542 |
1.264160 |
| 1716 | mutation | K.DQQVTEISFSMS:EK.M | T | S | 875 | 12 | 1 | GOLGB1 | E7EU81 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EU81,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 121416612-121416622;M1;121416623-121416660 | 1 | 31 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 29 | 1014 | Unknown | 2.40053843093 |
3022.69721968,5807.84483542 |
1.264160 |
| 1718 | mutation | K.SEDVQSIEVQV:K.E | R | K | 291 | 12 | 1 | PARP14 | H7C5R8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C5R8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 122418712-122418749;M1;122418750-122418754 | 1 | 13 | 8 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | - | 22 | 28 | 1270 | Unknown | 2.00565983947 |
3463.11168222,5807.84483542 |
2.688722 |
| 1718 | mutation | K.SEDVQSIEVQV:K.E | R | K | 450 | 12 | 1 | PARP14 | Q460N5 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Reference-proteome;Repeat;-Transcription;-Transcription-regulation;-Transferase. | Intracellular | Atlas | chr3 | 122418712-122418749;M1;122418750-122418754 | 1 | 13 | 8 | 1 | 1 | 1 | 0 | 225 | 200 | -25 | -3.900000 | Hydrophilic;3.000000 | - | 22 | 28 | 1270 | Unknown | 2.00565983947 |
3463.11168222,5807.84483542 |
2.688722 |
| 1719 | mutation | K.SSLPPL:LGTES:DATVK.K | V | L | 13 | 6 | 1 | MYLK | D6R9C2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:D6R9C2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 123386014-123386034;123401070-123401085;M1;123401086-123401104 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 1 | 10 | Unknown | 2.0335390665 |
3407.97674538,5807.84483542 |
0.000000 |
| 1719 | mutation | K.SSLPPL:LGTES:DATVK.K | V | L | 1213 | 6 | 1 | MYLK | Q15746 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-initiation;Alternative-splicing;-Aortic-aneurysm;-ATP-binding;-Calcium;Calmodulin-binding;-Cell-projection;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Immunoglobulin-domain;-Kinase;-Magnesium;Metal-binding;-Nucleotide-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Serine/threonine-protein-kinase; | Intracellular | Atlas | chr3 | 123386014-123386034;123401070-123401085;M1;123401086-123401104 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->M(foundinapatientwithfamilial | 1 | 1 | 10 | Unknown | 2.0335390665 |
3407.97674538,5807.84483542 |
0.000000 |
| 1720 | mutation | R.FIQENVFVAANHN:ASPLSIK.E | G | A | 213 | 14 | 1 | UMPS | P11172 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Decarboxylase;-Disease-mutation;-Glycosyltransferase;-Lyase;Multifunctional-enzyme;-Phosphoprotein;-Polymorphism;Pyrimidine-biosynthesis;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr3 | 124456698-124456741;M1;124456742-124456764 | 2 | 15 | 25 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs1801019). | 15 | 15 | 2888 | Unknown | 3.47662655493 |
1882.18764638,5807.84483542 |
1.000000 |
| 1720 | mutation | R.FIQENVFVAANHN:ASPLSIK.E | G | A | 213 | 14 | 1 | UMPS | E9PFD2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PFD2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 124456698-124456741;M1;124456742-124456764 | 2 | 15 | 25 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | - | 15 | 15 | 2888 | Unknown | 3.47662655493 |
1882.18764638,5807.84483542 |
1.000000 |
| 1721 | mutation | K.NGCGGEIQ:SPASSFHVLR.S | E | Q | 80 | 8 | 1 | ITGB5 | P18084 | Cell-adhesion;-Complete-proteome;-Disulfide-bond;-Glycoprotein;Host-cell-receptor-for-virus-entry;-Host-virus-interaction;-Integrin;Membrane;-Phosphoprotein;-Polymorphism;-Receptor;-Reference-proteome;Repeat;-Signal;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr3 | 124578176-124578211;M1;124578212-124578236 | 1 | 0 | 6 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 16 | 1 | 247 | Targetable | 2.3716961192 |
3018.83343542,5807.84483542 |
0.000000 |
| 1722 | mutation | R.QLQPAPLEL:LGSPDAGLGAAVGK.E | P | L | 19 | 9 | 1 | SNX4 | O95219 | Acetylation;-Alternative-splicing;-Complete-proteome;-Endosome;Lipid-binding;-Membrane;-Phosphoprotein;-Protein-transport;Reference-proteome;-Transport. | Intracellular | Atlas | chr3 | 125238914-125238960;M1;125238961-125238989 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 13 | Unknown | 1.60382008538 |
3910.44853616,5807.84483542 |
0 |
| 1722 | mutation | R.QLQPAPLEL:LGSPDAGLGAAVGK.E | P | L | 19 | 9 | 1 | SNX4 | F8WDD4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WDD4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 125238914-125238960;M1;125238961-125238989 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 13 | Unknown | 1.60382008538 |
3910.44853616,5807.84483542 |
0 |
| 1723 | mutation | R.SEDLLDYGPL:R.D | F | L | 31 | 10 | 1 | RPN1 | B7Z4L4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|RuleBase:RU361143};Proteomics-identification-{ECO:0000213|EPD:B7Z4L4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU361143}. | Membrane-Bound | Atlas | chr3 | 128356659-128356665;M1;128356666-128356698 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 500 | Intra-Cellular-Peptide | 5.37498527866 |
770.12992556,5807.84483542 |
0.000000 |
| 1723 | mutation | R.SEDLLDYGPL:R.D | F | L | 203 | 10 | 1 | RPN1 | P04843 | Acetylation;-Complete-proteome;-Endoplasmic-reticulum;-Glycoprotein;Glycosyltransferase;-Isopeptide-bond;-Membrane;-Reference-proteome;Signal;-Transferase;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr3 | 128356659-128356665;M1;128356666-128356698 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 2 | 500 | Lumenal | 5.37498527866 |
770.12992556,5807.84483542 |
0.000000 |
| 1724 | mutation | G.TRK:SVEEYANCHLAR.A | P | S | 589 | 4 | 1 | TF | P02787 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Ion-transport;-Iron;Iron-transport;-Metal-binding;-Methylation;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Transport. | Intracellular | Atlas | chr3 | 133494341-133494353;M1;133494354-133494392 | 3 | 8 | 204 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(inalleleTF*C2; | 3 | 7 | 79 | Unknown | 6.74992529739 |
545.586155007,5807.84483542 |
0.000000 |
| 1725 | mutation | K.GVNCIDYYSGGE:KPYLISGADDR.L | D | E | 198 | 12 | 1 | COPB2 | P35606 | Acetylation;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoplasmic-vesicle;-Direct-protein-sequencing;ER-Golgi-transport;-Golgi-apparatus;-Membrane;-Phosphoprotein;Protein-transport;-Reference-proteome;-Repeat;-Transport;-WD-repeat. | Intracellular | Atlas | chr3 | 139094330-139094366;M1;139094367-139094405 | 1 | 2 | 20 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 16 | 3205 | Unknown | 4.24437326309 |
1295.81653493,5807.84483542 |
0.000000 |
| 1726 | mutation | R.QYTDSTFH:VPVER.K | R | H | 722 | 8 | 1 | CP | E9PFZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PFZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 148901280-148901299;M1;148901300-148901325 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 6 | 1 | 250 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1726 | mutation | R.QYTDSTFH:VPVER.K | R | H | 576 | 8 | 1 | CP | H7C5R1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C5R1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 148901280-148901299;M1;148901300-148901325 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 6 | 1 | 250 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1726 | mutation | R.QYTDSTFH:VPVER.K | R | H | 793 | 8 | 1 | CP | P00450 | 3D-structure;-Complete-proteome;-Copper;-Copper-transport;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Ion-transport;-Metal-binding;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Transport. | Intracellular | Atlas | chr3 | 148901280-148901299;M1;148901300-148901325 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H.{ECO:0000269|PubMed:15557511, | 6 | 1 | 250 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1727 | mutation | K.DIFI:GLIGPMK.I | T | I | 551 | 4 | 1 | CP | E9PFZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PFZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 148916189-148916214;M1;148916215-148916228 | 1 | 2 | 21 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 18 | 5 | 961 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1727 | mutation | K.DIFI:GLIGPMK.I | T | I | 334 | 4 | 1 | CP | H7C5R1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C5R1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 148916189-148916214;M1;148916215-148916228 | 1 | 2 | 21 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 18 | 5 | 961 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1727 | mutation | K.DIFI:GLIGPMK.I | T | I | 551 | 4 | 1 | CP | P00450 | 3D-structure;-Complete-proteome;-Copper;-Copper-transport;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Ion-transport;-Metal-binding;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Transport. | Intracellular | Atlas | chr3 | 148916189-148916214;M1;148916215-148916228 | 1 | 2 | 21 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I.{ECO:0000269|PubMed:15557511}. | 18 | 5 | 961 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1728 | mutation | K.MYYSAVD:PTK.D | E | D | 544 | 7 | 1 | CP | E9PFZ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PFZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr3 | 148916222-148916234;M1;148916235-148916258 | 3 | 2 | 380 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 124 | 82 | 12896 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1728 | mutation | K.MYYSAVD:PTK.D | E | D | 327 | 7 | 1 | CP | H7C5R1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C5R1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 148916222-148916234;M1;148916235-148916258 | 3 | 2 | 380 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 124 | 82 | 12896 | Unknown | 4.6822640488 |
1015.06652591,5807.84483542 |
0.000000 |
| 1729 | mutation | R.VSCLGI:TDDGMAVATGSWDSFLR.I | V | I | 320 | 6 | 1 | GNB4 | Q9HAV0 | Acetylation;-Charcot-Marie-Tooth-disease;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Neurodegeneration;Neuropathy;-Phosphoprotein;-Reference-proteome;-Repeat;-Transducer; | Intracellular | Atlas | chr3 | 179119009-179119065;M1;179119066-179119084 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 21 | 2 | 63 | Unknown | 1.97255835762 |
3371.32155776,5807.84483542 |
0.000000 |
| 1730 | mutation | K.EWQELDD:TEK.V | A | T | 176 | 8 | 2 | PSMD2 | Q13200 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Phosphoprotein;-Polymorphism;-Proteasome;Reference-proteome;-Repeat. | Intracellular | Atlas | chr3 | 184019656-184019680;M1;184019681-184019692 | 1 | 6 | 16 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs11545172). | 44 | 6 | 1388 | Unknown | 4.31086409951 |
1233.33499349,5807.84483542 |
0.000000 |
| 1731 | mutation | K.LSSSAIPHL:YSE:ALK.- | H | Y | 1165 | 10 | 1 | VPS8 | Q8N3P4 | Alternative-splicing;-Complete-proteome;-Endosome;-Metal-binding;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome;Transport;-WD-repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr3 | 184700395-184700425;M1;184700426-184700435;184700799-184700807 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | H->Y(indbSNP:rs11555405). | 3 | 37 | 2159 | Unknown | -0.187048614938 |
6116.74871386,5807.84483542 |
0.000000 |
| 1731 | mutation | K.LSSSAIPHL:YSE:ALK.- | H | Y | 1165 | 10 | 1 | VPS8 | C9JJN9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JJN9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 184700395-184700425;M1;184700426-184700435;184700799-184700807 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 37 | 2159 | Unknown | -0.187048614938 |
6116.74871386,5807.84483542 |
0.000000 |
| 1733 | mutation | K.HPLKPD:IQPFPQSVSESCPGK.F | N | I | 493 | 7 | 1 | HRG | P04196 | Angiogenesis;-Blood-coagulation;-Chemotaxis;Cleavage-on-pair-of-basic-residues;-Complete-proteome;-Copper;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Fibrinolysis;-Glycoprotein;-Hemostasis;-Heparin-binding;Metal-binding;-Polymorphism;-Reference-proteome;-Repeat;-Secreted;Signal;-Thrombophilia;-Zinc. | Intracellular | Atlas | chr3 | 186395549-186395571;M1;186395572-186395618 | 3 | 4 | 32 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | N->I(indbSNP:rs1042464). | 60 | 10 | 30 | Unknown | 3.63395467224 |
1736.18347548,5807.84483542 |
0.000000 |
| 1734 | mutation | K.DFFTS:GSPEET:VFR.A | A | V | 192 | 12 | 1 | OPA1 | O60313 | Acetylation;-Alternative-splicing;-Apoptosis;-Cardiomyopathy;Coiled-coil;-Complete-proteome;-Deafness;-Disease-mutation;GTP-binding;-Hydrolase;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Neurodegeneration;-Nucleotide-binding;Polymorphism;-Reference-proteome;-Sensory-transduction;Transit-peptide;-Transmembrane;-Transmembrane-helix;-Vision. | Membrane-Bound | Atlas | chr3 | 193335055-193335074;193336657-193336675;M1;193336676-193336686 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs34307082). | 3 | 3 | 221 | Mitochondrial intermembrane | 3.6361676939 |
1753.38056677,5807.84483542 |
2.446617 |
| 1734 | mutation | K.DFFTS:GSPEET:VFR.A | A | V | 68 | 12 | 1 | OPA1 | C9JY58 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JY58,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 193335055-193335074;193336657-193336675;M1;193336676-193336686 | 1 | 5 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 3 | 221 | Unknown | 3.6361676939 |
1753.38056677,5807.84483542 |
2.446617 |
| 1735 | mutation | K.FSDSLQEMII:FHT:ILFDQTQR.S | N | I | 92 | 10 | 1 | ACAP2 | A0A0U1RQT1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQT1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 195066019-195066046;195101737-195101747;M1;195101748-195101779 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 12 | Unknown | 2.18649191821 |
3271.12402005,5807.84483542 |
0 |
| 1735 | mutation | K.FSDSLQEMII:FHT:ILFDQTQR.S | N | I | 92 | 10 | 1 | ACAP2 | Q15057 | ANK-repeat;-Coiled-coil;-Complete-proteome;-Endosome;GTPase-activation;-Membrane;-Metal-binding;-Phosphoprotein;Reference-proteome;-Repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr3 | 195066019-195066046;195101737-195101747;M1;195101748-195101779 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 175 | 15 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 12 | Unknown | 2.18649191821 |
3271.12402005,5807.84483542 |
0 |
| 1736 | mutation | K.LDSTDFTS:TIK:.L | G | S | 61 | 8 | 1 | TFRC | G3V0E5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V0E5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 195799019-195799023;195800800-195800810;M1;195800811-195800835 | 2 | 4 | 90 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 36 | 46 | 4937 | Unknown | 3.68142258563 |
1677.3729912,5807.84483542 |
3.225310 |
| 1736 | mutation | K.LDSTDFTS:TIK:.L | G | S | 142 | 8 | 1 | TFRC | P02786 | 3D-structure;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Endocytosis;-Glycoprotein;-Host-cell-receptor-for-virus-entry;Host-virus-interaction;-Lipoprotein;-Membrane;-Palmitate;Phosphoprotein;-Polymorphism;-Receptor;-Reference-proteome;-Secreted;Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr3 | 195799019-195799023;195800800-195800810;M1;195800811-195800835 | 2 | 4 | 90 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(rarepolymorphism; | 36 | 46 | 4937 | Targetable | 3.68142258563 |
1677.3729912,5807.84483542 |
3.225310 |
| 1737 | mutation | -.GHVDILAP:AVQELAALEK.E | T | A | 630 | 8 | 1 | DDX1 | F1T0B3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F1T0B3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 15770913-15770937;M1;15770938-15770970 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 225 | Unknown | 4.49746704125 |
1132.01347634,5807.84483542 |
1.584963 |
| 1737 | mutation | -.GHVDILAP:AVQELAALEK.E | T | A | 630 | 8 | 1 | DDX1 | A0A087X2G1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X2G1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 15770913-15770937;M1;15770938-15770970 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 225 | Unknown | 4.49746704125 |
1132.01347634,5807.84483542 |
1.584963 |
| 1737 | mutation | -.GHVDILAP:AVQELAALEK.E | T | A | 711 | 8 | 1 | DDX1 | Q92499 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;ATP-binding;-Complete-proteome;-Cytoplasm;-DNA-binding;-Exonuclease;Helicase;-Hydrolase;-mRNA-processing;-Nuclease;-Nucleotide-binding;Nucleus;-Phosphoprotein;-Reference-proteome;-RNA-binding;Transcription;-Transcription-regulation;-tRNA-processing. | Intracellular | Atlas | chr2 | 15770913-15770937;M1;15770938-15770970 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 225 | Unknown | 4.49746704125 |
1132.01347634,5807.84483542 |
1.584963 |
| 1738 | mutation | K.TAQILNLQQHLST:LEK.D | A | T | 717 | 13 | 1 | SMC6 | C9JMN1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JMN1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 17884480-17884494;M1;17884495-17884534 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 44 | 2447 | Unknown | -0.0199336821592 |
5969.5795124,5807.84483542 |
2.256182 |
| 1738 | mutation | K.TAQILNLQQHLST:LEK.D | A | T | 691 | 13 | 1 | SMC6 | Q96SB8 | Alternative-splicing;-ATP-binding;-Chromosome;-Coiled-coil;Complete-proteome;-DNA-damage;-DNA-recombination;-DNA-repair;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Telomere;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 17884480-17884494;M1;17884495-17884534 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1065381). | 3 | 44 | 2447 | Unknown | -0.0199336821592 |
5969.5795124,5807.84483542 |
2.256182 |
| 1739 | mutation | R.NL:PEIAVYPAFEAPPQ:YVLPTYEMAVK.M | V | L | 195 | 2 | 1 | LAPTM4A | Q15012 | Acetylation;-Complete-proteome;-Membrane;-Reference-proteome;Transmembrane;-Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr2 | 20233004-20233040;20234077-20234121;M1;20234122-20234128 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 2 | 498 | Intra-Cellular-Peptide | 0.327994903436 |
5284.17643202,5807.84483542 |
0.000000 |
| 1740 | mutation | R.TLADLI:LLDSPIK.V | T | I | 2018 | 6 | 1 | APOB | P04114 | Acetylation;-Atherosclerosis;-Cholesterol-metabolism;-Chylomicron;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Heparin-binding;-LDL;Lipid-metabolism;-Lipid-transport;-Lipoprotein;-Palmitate;Phosphoprotein;-Polymorphism;-Reference-proteome;-RNA-editing;Secreted;-Signal;-Steroid-metabolism;-Sterol-metabolism;-Transport; | Intracellular | Atlas | chr2 | 21233661-21233686;M1;21233687-21233706 | 1 | 35 | 2 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 1 | Unknown | 3.15135922788 |
2209.58727726,5807.84483542 |
0.000000 |
| 1740 | mutation | R.TLADLI:LLDSPIK.V | T | I | 2018 | 6 | 1 | APOB | A0A087WTM7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTM7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 21233661-21233686;M1;21233687-21233706 | 1 | 35 | 2 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 1 | Unknown | 3.15135922788 |
2209.58727726,5807.84483542 |
0.000000 |
| 1741 | mutation | K.NTFTLSC:DGSLR.H | Y | C | 1422 | 7 | 1 | APOB | P04114 | Acetylation;-Atherosclerosis;-Cholesterol-metabolism;-Chylomicron;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Heparin-binding;-LDL;Lipid-metabolism;-Lipid-transport;-Lipoprotein;-Palmitate;Phosphoprotein;-Polymorphism;-Reference-proteome;-RNA-editing;Secreted;-Signal;-Steroid-metabolism;-Sterol-metabolism;-Transport; | Intracellular | Atlas | chr2 | 21235455-21235474;M1;21235475-21235497 | 2 | 14 | 80 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | Y->C(indbSNP:rs568413). | 84 | 3 | 3 | Unknown | 3.15135922788 |
2209.58727726,5807.84483542 |
0.000000 |
| 1742 | mutation | R.LQESCSVCLAGLDGF:HR.Q | R | H | 313 | 16 | 1 | EMILIN1 | A0A0C4DFX3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DFX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 27305327-27305376;M1;27305377-27305384 | 1 | 26 | 2 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 1 | 82 | Unknown | 3.74923523603 |
1633.8296576,5807.84483542 |
0 |
| 1743 | mutation | R.GTELGGA:EGQGGHPPGYTSLASR.L | A | E | 391 | 8 | 1 | EMILIN1 | A0A0C4DFX3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DFX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 27305585-27305610;M1;27305611-27305660 | 1 | 30 | 1 | 1 | 0 | -1 | -1 | 115 | 190 | 75 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 31 | Unknown | 3.74923523603 |
1633.8296576,5807.84483542 |
0 |
| 1744 | mutation | R.AAIDG:YVQEK.I | R | G | 327 | 5 | 1 | EIF2B4 | E7ERK9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ERK9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 27590017-27590037;M1;27590038-27590053 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 4 | 684 | Unknown | 2.18068559992 |
3299.54155643,5807.84483542 |
4.857981 |
| 1744 | mutation | R.AAIDG:YVQEK.I | R | G | 306 | 5 | 1 | EIF2B4 | Q9UI10 | Acetylation;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Initiation-factor;-Leukodystrophy;-Phosphoprotein;Polymorphism;-Protein-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr2 | 27590017-27590037;M1;27590038-27590053 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs78599355). | 6 | 4 | 684 | Unknown | 2.18068559992 |
3299.54155643,5807.84483542 |
4.857981 |
| 1744 | mutation | R.AAIDG:YVQEK.I | R | G | 303 | 5 | 1 | EIF2B4 | A0A087WTA5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WTA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 27590017-27590037;M1;27590038-27590053 | 1 | 1 | 3 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 4 | 684 | Unknown | 2.18068559992 |
3299.54155643,5807.84483542 |
4.857981 |
| 1745 | mutation | R.SLQEEQSRP:TTAVSSPGGPAR.A | P | T | 139 | 10 | 1 | SLC4A1AP | Q9BWU0 | 3D-structure;-Coiled-coil;-Complete-proteome;-Cytoplasm;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 27887003-27887033;M1;27887034-27887072 | 2 | 12 | 51 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | P->T(indbSNP:rs9678851). | 9 | 50 | 3759 | Unknown | 0.801640885773 |
4958.84571777,5807.84483542 |
2.395562 |
| 1745 | mutation | R.SLQEEQSRP:TTAVSSPGGPAR.A | P | T | 85 | 10 | 1 | SLC4A1AP | A0A087X0M4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X0M4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 27887003-27887033;M1;27887034-27887072 | 2 | 12 | 51 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 9 | 50 | 3759 | Unknown | 0.801640885773 |
4958.84571777,5807.84483542 |
2.395562 |
| 1746 | mutation | R.YP:VDTLPTSK.E | I | V | 290 | 3 | 1 | LCLAT1 | Q6UWP7 | Acetylation;-Acyltransferase;-Alternative-splicing;-Complete-proteome;Developmental-protein;-Endoplasmic-reticulum;-Lipid-biosynthesis;Lipid-metabolism;-Membrane;-Phospholipid-biosynthesis;Phospholipid-metabolism;-Polymorphism;-Reference-proteome;Transferase;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr2 | 30863098-30863107;M1;30863108-30863134 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs12471868). | 12 | 21 | 935 | Intra-Cellular-Peptide | 1.72431215637 |
3816.35471346,5807.84483542 |
2.438722 |
| 1747 | mutation | K.QECCCTSG:AGWGDNCEIFPCPVLGT:AEFTEMCPK.G | V | A | 997 | 9 | 1 | LTBP1 | C9JD84 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00601599};EGF-like-domain-{ECO:0000256|SAAS:SAAS00438935};Proteomics-identification-{ECO:0000213|EPD:C9JD84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 33585767-33585795;M1;33585796-33585846;33586495-33586524 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 67 | 4507 | Unknown | 1.23072115579 |
4413.49059671,5807.84483542 |
0.000000 |
| 1747 | mutation | K.QECCCTSG:AGWGDNCEIFPCPVLGT:AEFTEMCPK.G | V | A | 214 | 9 | 1 | LTBP1 | H7C0I7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00601599};EGF-like-domain-{ECO:0000256|SAAS:SAAS00602928};Proteomics-identification-{ECO:0000213|EPD:H7C0I7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 33585767-33585795;M1;33585796-33585846;33586495-33586524 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 67 | 4507 | Unknown | 1.23072115579 |
4413.49059671,5807.84483542 |
0.000000 |
| 1747 | mutation | K.QECCCTSG:AGWGDNCEIFPCPVLGT:AEFTEMCPK.G | V | A | 1378 | 9 | 1 | LTBP1 | Q14766 | 3D-structure;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-EGF-like-domain;Glycoprotein;-Growth-factor-binding;-Hydroxylation;-Phosphoprotein;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr2 | 33585767-33585795;M1;33585796-33585846;33586495-33586524 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 67 | 4507 | Unknown | 1.23072115579 |
4413.49059671,5807.84483542 |
0.000000 |
| 1747 | mutation | K.QECCCTSG:AGWGDNCEIFPCPVLGT:AEFTEMCPK.G | V | A | 1010 | 9 | 1 | LTBP1 | E7EV71 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00601599};EGF-like-domain-{ECO:0000256|SAAS:SAAS00438935};Proteomics-identification-{ECO:0000213|EPD:E7EV71,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 33585767-33585795;M1;33585796-33585846;33586495-33586524 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 67 | 4507 | Unknown | 1.23072115579 |
4413.49059671,5807.84483542 |
0.000000 |
| 1748 | mutation | K.ASLI:EEDEPAEK.E | V | I | 102 | 4 | 1 | CEBPZ | A0A087X1N2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1N2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 37456002-37456031;M1;37456032-37456044 | 2 | 16 | 22 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 46 | 83 | 9720 | Unknown | 1.57243190275 |
4062.76766452,5807.84483542 |
2.036296 |
| 1748 | mutation | K.ASLI:EEDEPAEK.E | V | I | 102 | 4 | 1 | CEBPZ | Q03701 | Acetylation;-Activator;-Complete-proteome;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transcription; | Intracellular | Atlas | chr2 | 37456002-37456031;M1;37456032-37456044 | 2 | 16 | 22 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2098386). | 46 | 83 | 9720 | Unknown | 1.57243190275 |
4062.76766452,5807.84483542 |
2.036296 |
| 1748 | mutation | K.ASLI:EEDEPAEK.E | V | I | 53 | 4 | 1 | CEBPZ | C9J9W7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J9W7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 37456002-37456031;M1;37456032-37456044 | 2 | 16 | 22 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 46 | 83 | 9720 | Unknown | 1.57243190275 |
4062.76766452,5807.84483542 |
2.036296 |
| 1750 | mutation | K.TTQIPQFILDDSLS:GPPEK.V | N | S | 587 | 14 | 1 | DHX57 | Q6P158 | Alternative-splicing;-ATP-binding;-Coiled-coil;-Complete-proteome;Helicase;-Hydrolase;-Metal-binding;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr2 | 39082324-39082343;M1;39082344-39082387 | 2 | 1 | 48 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs7598922). | 3 | 58 | 1921 | Unknown | -0.224982004148 |
6163.20104304,5807.84483542 |
2.391041 |
| 1751 | mutation | K.GMQELGVHPDQETYA:DYVIPCFDSVNSAR.A | T | A | 478 | 15 | 1 | LRPPRC | A0A0C4DG06 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DG06,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 44190735-44190782;M1;44190783-44190828 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 151 | Unknown | 4.8468024995 |
959.905713401,5807.84483542 |
0.000000 |
| 1751 | mutation | K.GMQELGVHPDQETYA:DYVIPCFDSVNSAR.A | T | A | 478 | 15 | 1 | LRPPRC | B8ZZ38 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B8ZZ38,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 44190735-44190782;M1;44190783-44190828 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 1 | 151 | Unknown | 4.8468024995 |
959.905713401,5807.84483542 |
0.000000 |
| 1751 | mutation | K.GMQELGVHPDQETYA:DYVIPCFDSVNSAR.A | T | A | 478 | 15 | 1 | LRPPRC | P42704 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-DNA-binding;-Leigh-syndrome;-Membrane;Mitochondrion;-mRNA-transport;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-Transcription;Transcription-regulation;-Transit-peptide;-Transport. | Intracellular | Atlas | chr2 | 44190735-44190782;M1;44190783-44190828 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs35035668). | 3 | 1 | 151 | Unknown | 4.8468024995 |
959.905713401,5807.84483542 |
0.000000 |
| 1753 | mutation | K.KMDLTVNGEQLDLD:TGQTLIYYVDEK.A | P | T | 244 | 15 | 1 | EPCAM | P16422 | 3D-structure;-Cell-junction;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hereditary-nonpolyposis-colorectal-cancer;-Membrane;Polymorphism;-Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;Signal;-Tight-junction;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr2 | 47606934-47606979;M1;47606980-47607018 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 1 | 250 | Targetable | 4.19790176005 |
1322.35634506,5807.84483542 |
0 |
| 1753 | mutation | K.KMDLTVNGEQLDLD:TGQTLIYYVDEK.A | P | T | 272 | 15 | 1 | EPCAM | B5MCA4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00485231};Proteomics-identification-{ECO:0000213|MaxQB:B5MCA4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr2 | 47606934-47606979;M1;47606980-47607018 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 1 | 250 | Targetable-Peptide | 4.19790176005 |
1322.35634506,5807.84483542 |
0 |
| 1754 | mutation | -.AAAAP:EASPSPGGDAAWSEAGPGPR.P | G | E | 39 | 5 | 1 | MSH6 | F8W7G9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W7G9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 48010471-48010487;M1;48010488-48010549 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 20 | 1022 | Unknown | 2.92361721396 |
2421.27399582,5807.84483542 |
3.592399 |
| 1754 | mutation | -.AAAAP:EASPSPGGDAAWSEAGPGPR.P | G | E | 39 | 5 | 1 | MSH6 | F8WAX8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAX8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 48010471-48010487;M1;48010488-48010549 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 20 | 1022 | Unknown | 2.92361721396 |
2421.27399582,5807.84483542 |
3.592399 |
| 1754 | mutation | -.AAAAP:EASPSPGGDAAWSEAGPGPR.P | G | E | 39 | 5 | 1 | MSH6 | P52701 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chromosome;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-DNA-damage;-DNA-repair;-DNA-binding;Hereditary-nonpolyposis-colorectal-cancer;-Host-virus-interaction;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr2 | 48010471-48010487;M1;48010488-48010549 | 1 | 0 | 2 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | G->E(indbSNP:rs1042821). | 6 | 20 | 1022 | Unknown | 2.92361721396 |
2421.27399582,5807.84483542 |
3.592399 |
| 1755 | mutation | K.IIGIMEE:AADGFK.S | V | A | 877 | 8 | 2 | MSH6 | A0A087WWJ1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWJ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 48027729-48027754;M1;48027755-48027774 | 1 | 29 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 4 | 765 | Unknown | 2.92361721396 |
2421.27399582,5807.84483542 |
2.992427 |
| 1755 | mutation | K.IIGIMEE:AADGFK.S | V | A | 878 | 8 | 2 | MSH6 | P52701 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Chromosome;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-DNA-damage;-DNA-repair;-DNA-binding;Hereditary-nonpolyposis-colorectal-cancer;-Host-virus-interaction;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr2 | 48027729-48027754;M1;48027755-48027774 | 1 | 29 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(insuspectedHNPCC5,colorectal/ | 6 | 4 | 765 | Unknown | 2.92361721396 |
2421.27399582,5807.84483542 |
2.992427 |
| 1756 | mutation | K.SIAIGSQP:LLTVGTTHISK.L | V | L | 318 | 9 | 2 | ERLEC1 | Q96DZ1 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;Glycoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Signal. | Intracellular | Atlas | chr2 | 54035480-54035507;M1;54035508-54035543 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | V->L(indbSNP:rs2287345). | 1 | 10 | 1386 | Unknown | 1.87758527945 |
3625.24125494,5807.84483542 |
0.000000 |
| 1757 | mutation | K.L:DSEHPDQAQAILSR.L | E | D | 1023 | 2 | 1 | SPTBN1 | A0A087WUZ3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 54858244-54858252;M1;54858253-54858295 | 1 | 17 | 5 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 13 | 4 | 547 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
1.903677 |
| 1757 | mutation | K.L:DSEHPDQAQAILSR.L | E | D | 1023 | 2 | 1 | SPTBN1 | Q01082 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-splicing;-Calmodulin-binding;-Cell-membrane;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Glycoprotein;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 54858244-54858252;M1;54858253-54858295 | 1 | 17 | 5 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 13 | 4 | 547 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
1.903677 |
| 1758 | mutation | K.TA:VSGIPYHSEVPVSLK.E | A | V | 2246 | 3 | 1 | SPTBN1 | A0A087WUZ3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 54893112-54893122;M1;54893123-54893169 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 242 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
0.000000 |
| 1758 | mutation | K.TA:VSGIPYHSEVPVSLK.E | A | V | 2244 | 3 | 1 | SPTBN1 | Q01082 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-splicing;-Calmodulin-binding;-Cell-membrane;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Glycoprotein;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 54893112-54893122;M1;54893123-54893169 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 242 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
0.000000 |
| 1759 | mutation | R.AQTLPTS:IVTITSESSPGKR.E | V | I | 2335 | 8 | 1 | SPTBN1 | A0A087WUZ3 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 54895583-54895607;M1;54895608-54895649 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 222 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
0 |
| 1759 | mutation | R.AQTLPTS:IVTITSESSPGKR.E | V | I | 2333 | 8 | 1 | SPTBN1 | Q01082 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-splicing;-Calmodulin-binding;-Cell-membrane;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Glycoprotein;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 54895583-54895607;M1;54895608-54895649 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 222 | Unknown | 4.2446514575 |
1291.32705333,5807.84483542 |
0 |
| 1760 | mutation | S.AAPVPTT:PAAGAPLMDFGNDFVPPAPR.G | A | T | 43 | 7 | 1 | RTN4 | F8W914 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Endoplasmic-reticulum-{ECO:0000256|RuleBase:RU210713};Proteomics-identification-{ECO:0000213|EPD:F8W914,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|RuleBase:RU210713}. | Membrane-Bound | Atlas | chr2 | 55277160-55277225;M1;55277226-55277247 | 1 | 3 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 15 | 14 | 3375 | Intra-Cellular-Peptide | 2.17056660765 |
3294.22732042,5807.84483542 |
0.000000 |
| 1760 | mutation | S.AAPVPTT:PAAGAPLMDFGNDFVPPAPR.G | A | T | 71 | 7 | 1 | RTN4 | Q9NQC3 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Endoplasmic-reticulum;-Membrane;Neurogenesis;-Phosphoprotein;-Polymorphism;-Reference-proteome;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr2 | 55277160-55277225;M1;55277226-55277247 | 1 | 3 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 15 | 14 | 3375 | Lumenal | 2.17056660765 |
3294.22732042,5807.84483542 |
0.000000 |
| 1761 | mutation | R.EV:GTSDKEILTSR.I | I | V | 121 | 2 | 1 | PNPT1 | Q8TCS8 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;-Deafness;Disease-mutation;-Exonuclease;-Hydrolase;-Membrane;-Mitochondrion;mRNA-processing;-Non-syndromic-deafness;-Nuclease;Nucleotidyltransferase;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-Transferase;-Transit-peptide; | Intracellular | Atlas | chr2 | 55912081-55912119;M1;55912120-55912126 | 2 | 0 | 14 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs782572). | 6 | 48 | 3817 | Unknown | 3.27979655757 |
2072.91347537,5807.84483542 |
2.236490 |
| 1761 | mutation | R.EV:GTSDKEILTSR.I | I | V | 121 | 2 | 1 | PNPT1 | H7BXF6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXF6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 55912081-55912119;M1;55912120-55912126 | 2 | 0 | 14 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 6 | 48 | 3817 | Unknown | 3.27979655757 |
2072.91347537,5807.84483542 |
2.236490 |
| 1762 | mutation | R.KLESQAGICLGDSQGT:SER.N | M | T | 661 | 16 | 1 | USP34 | Q70CQ2 | Alternative-splicing;-Complete-proteome;-Hydrolase;-Phosphoprotein;Polymorphism;-Protease;-Reference-proteome;-Thiol-protease;Ubl-conjugation-pathway;-Wnt-signaling-pathway. | Intracellular | Atlas | chr2 | 61575294-61575307;M1;61575308-61575357 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->T(indbSNP:rs6722430). | 6 | 84 | 1870 | Unknown | -1.25308898458 |
7188.51053516,5807.84483542 |
2.745723 |
| 1763 | mutation | R.AFADAMD:VIPSTLAENAGLNPISTVTELR.N | E | D | 459 | 7 | 1 | CCT4 | P50991 | Acetylation;-Alternative-splicing;-ATP-binding;-Cell-projection;Chaperone;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 62099261-62099330;M1;62099331-62099354 | 1 | 3 | 6 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 4.95052286716 |
909.541849761,5807.84483542 |
0 |
| 1764 | mutation | N.SYGVPD:HLLYSFPVVIK:.N | D | H | 118 | 7 | 1 | MDH1 | B8ZZ51 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B8ZZ51,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 63833108-63833129;M1;63833130-63833162;63833995-63833998 | 1 | 4 | 1 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | - | 3 | 15 | 298 | Unknown | 5.38517565308 |
755.187141816,5807.84483542 |
0.000000 |
| 1764 | mutation | N.SYGVPD:HLLYSFPVVIK:.N | D | H | 283 | 7 | 1 | MDH1 | P40925 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-NAD;-Oxidoreductase;-Phosphoprotein;Reference-proteome;-Tricarboxylic-acid-cycle;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 63833108-63833129;M1;63833130-63833162;63833995-63833998 | 1 | 4 | 1 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | - | 3 | 15 | 298 | Unknown | 5.38517565308 |
755.187141816,5807.84483542 |
0.000000 |
| 1764 | mutation | N.SYGVPD:HLLYSFPVVIK:.N | D | H | 159 | 7 | 1 | MDH1 | B9A041 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B9A041,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 63833108-63833129;M1;63833130-63833162;63833995-63833998 | 1 | 4 | 1 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | - | 3 | 15 | 298 | Unknown | 5.38517565308 |
755.187141816,5807.84483542 |
0.000000 |
| 1765 | mutation | K.NSGEEEIDSLQ:SMVQELR.K | R | S | 249 | 12 | 1 | ARHGAP25 | C9JB56 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JB56,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 69049900-69049938;M1;69049939-69049960 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 115 | -110 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 32 | 964 | Unknown | 1.0615398171 |
4585.75766759,5807.84483542 |
2.909516 |
| 1765 | mutation | K.NSGEEEIDSLQ:SMVQELR.K | R | S | 415 | 12 | 1 | ARHGAP25 | H7C4P1 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C4P1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 69049900-69049938;M1;69049939-69049960 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 115 | -110 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 32 | 964 | Unknown | 1.0615398171 |
4585.75766759,5807.84483542 |
2.909516 |
| 1765 | mutation | K.NSGEEEIDSLQ:SMVQELR.K | R | S | 555 | 12 | 1 | ARHGAP25 | P42331 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;GTPase-activation;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 69049900-69049938;M1;69049939-69049960 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 115 | -110 | -0.800000 | Hydrophilic;0.300000 | R->S(indbSNP:rs4241344). | 3 | 32 | 964 | Unknown | 1.0615398171 |
4585.75766759,5807.84483542 |
2.909516 |
| 1766 | mutation | N.LLSHSVQAAN:HLDSISPR.G | D | N | 396 | 10 | 2 | AAK1 | A0A096LP25 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LP25,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 69692877-69692906;M1;69692907-69692937 | 1 | 10 | 2 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 1 | 17 | Unknown | 1.26356685031 |
4418.5890681,5807.84483542 |
0.000000 |
| 1767 | mutation | K.A:QTTPPPAVQGQK.V | V | A | 603 | 1 | 1 | AAK1 | E9PG46 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PG46,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 69736520-69736560;M1;69736561-69736565 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 5 | 296 | Unknown | 1.26356685031 |
4418.5890681,5807.84483542 |
0.000000 |
| 1767 | mutation | K.A:QTTPPPAVQGQK.V | V | A | 603 | 1 | 1 | AAK1 | Q2M2I8 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-membrane;-Coated-pit;-Complete-proteome;-Endocytosis;-Kinase;Membrane;-Nucleotide-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Serine/threonine-protein-kinase;-Transferase. | Intracellular | Atlas | chr2 | 69736520-69736560;M1;69736561-69736565 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs56038532). | 1 | 5 | 296 | Unknown | 1.26356685031 |
4418.5890681,5807.84483542 |
0.000000 |
| 1768 | mutation | R.GHC:VLCDFGSATNK.F | Y | C | 190 | 3 | 1 | AAK1 | E9PG46 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PG46,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 69759222-69759259;M1;69759260-69759270 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 11 | 1 | 79 | Unknown | 1.26356685031 |
4418.5890681,5807.84483542 |
0.000000 |
| 1768 | mutation | R.GHC:VLCDFGSATNK.F | Y | C | 190 | 3 | 1 | AAK1 | Q2M2I8 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Cell-membrane;-Coated-pit;-Complete-proteome;-Endocytosis;-Kinase;Membrane;-Nucleotide-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Serine/threonine-protein-kinase;-Transferase. | Intracellular | Atlas | chr2 | 69759222-69759259;M1;69759260-69759270 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 11 | 1 | 79 | Unknown | 1.26356685031 |
4418.5890681,5807.84483542 |
0.000000 |
| 1769 | mutation | R.N:QNHLLH:VFDEYK.R | R | Q | 202 | 2 | 1 | ANXA4 | P09525 | 3D-structure;-Acetylation;-Alternative-splicing;-Annexin;-Calcium;Calcium/phospholipid-binding;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 70043301-70043308;M1;70043309-70043326;70045730-70045750 | 1 | 4 | 6 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 12 | 8 | 252 | Unknown | 5.31649415797 |
786.302351066,5807.84483542 |
0.000000 |
| 1769 | mutation | R.N:QNHLLH:VFDEYK.R | R | Q | 182 | 2 | 1 | ANXA4 | Q6P452 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q6P452,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00429366}. | Intracellular | Atlas | chr2 | 70043301-70043308;M1;70043309-70043326;70045730-70045750 | 1 | 4 | 6 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 12 | 8 | 252 | Unknown | 5.31649415797 |
786.302351066,5807.84483542 |
0.000000 |
| 1770 | mutation | K.SETSGSF:QDALLAI:VK.C | E | Q | 233 | 8 | 1 | ANXA4 | P09525 | 3D-structure;-Acetylation;-Alternative-splicing;-Annexin;-Calcium;Calcium/phospholipid-binding;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 70045780-70045804;M1;70045805-70045826;70046411-70046419 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 7 | 247 | Unknown | 5.31649415797 |
786.302351066,5807.84483542 |
0.000000 |
| 1770 | mutation | K.SETSGSF:QDALLAI:VK.C | E | Q | 213 | 8 | 1 | ANXA4 | Q6P452 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q6P452,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Repeat-{ECO:0000256|RuleBase:RU003540,-ECO:0000256|SAAS:SAAS00429366}. | Intracellular | Atlas | chr2 | 70045780-70045804;M1;70045805-70045826;70046411-70046419 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 7 | 247 | Unknown | 5.31649415797 |
786.302351066,5807.84483542 |
0.000000 |
| 1771 | mutation | R.LYYLNGIECAA:GAMEMSAIAAHNAALLAYHR.W | S | G | 465 | 12 | 1 | PCYOX1 | Q9UHG3 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;FAD;-Flavoprotein;-Glycoprotein;-Isopeptide-bond;-Lysosome;Oxidoreductase;-Polymorphism;-Reference-proteome;-Signal; | Intracellular | Atlas | chr2 | 70504362-70504398;M1;70504399-70504461 | 1 | 8 | 13 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs34041544). | 27 | 1 | 163 | Unknown | 3.47930397863 |
1892.34320447,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 163 | 11 | 1 | NAGK | H0YEB7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YEB7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 28 | 11 | 1 | NAGK | E9PPU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PPU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 28 | 11 | 1 | NAGK | H7C286 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C286,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 176 | 11 | 1 | NAGK | Q9UJ70 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Direct-protein-sequencing;-Kinase;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 125 | 11 | 1 | NAGK | C9JEV6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JEV6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 70 | 11 | 1 | NAGK | H0YC94 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YC94,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1772 | mutation | K.IVFDSIDNLE:VAPHDIGYVK.Q | A | V | 176 | 11 | 1 | NAGK | H7C3G9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C3G9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 71300637-71300671;M1;71300672-71300703 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 25 | 1 | 250 | Unknown | 4.22807585267 |
1295.71394964,5807.84483542 |
0.000000 |
| 1773 | mutation | K.MELLHPLGL:DSPIAGFLQK.N | R | L | 104 | 9 | 1 | MCEE | Q96PE7 | 3D-structure;-Acetylation;-Cobalt;-Complete-proteome;-Isomerase;Metal-binding;-Mitochondrion;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr2 | 71351368-71351402;M1;71351403-71351431 | 2 | 3 | 9 | 1 | 1 | 0 | -1 | 225 | 170 | -55 | Hydrophobic;3.800000 | -1.800000 | R->L(indbSNP:rs6748672). | 7 | 21 | 1014 | Unknown | 1.82750767452 |
3476.59029551,5807.84483542 |
1.505549 |
| 1774 | mutation | K.NILGAQVSEV:VPLPEHGVSVVFVNLGNTK.M | A | V | 76 | 10 | 1 | MCEE | Q96PE7 | 3D-structure;-Acetylation;-Cobalt;-Complete-proteome;-Isomerase;Metal-binding;-Mitochondrion;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr2 | 71351425-71351486;M1;71351487-71351518 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs11541017). | 3 | 42 | 1627 | Unknown | 1.82750767452 |
3476.59029551,5807.84483542 |
2.588744 |
| 1775 | mutation | K.SV:VSDVPE:ELDFLVPK.A | A | V | 1912 | 3 | 1 | ZNF638 | Q14966 | Activator;-Alternative-splicing;-Complete-proteome;-DNA-binding;Metal-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-Transcription;Transcription-regulation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr2 | 71658530-71658540;M1;71658541-71658558;71660294-71660320 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs11542286). | 47 | 22 | 2901 | Unknown | 1.77211938892 |
3800.28270404,5807.84483542 |
0.000000 |
| 1775 | mutation | K.SV:VSDVPE:ELDFLVPK.A | A | V | 108 | 3 | 1 | ZNF638 | A0A096LNS4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LNS4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 71658530-71658540;M1;71658541-71658558;71660294-71660320 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 47 | 22 | 2901 | Unknown | 1.77211938892 |
3800.28270404,5807.84483542 |
0.000000 |
| 1775 | mutation | K.SV:VSDVPE:ELDFLVPK.A | A | V | 219 | 3 | 1 | ZNF638 | A0A096LPK8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LPK8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 71658530-71658540;M1;71658541-71658558;71660294-71660320 | 1 | 1 | 19 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 47 | 22 | 2901 | Unknown | 1.77211938892 |
3800.28270404,5807.84483542 |
0.000000 |
| 1776 | mutation | R.EQLDMAGAQ:VR.E | R | Q | 495 | 9 | 1 | DCTN1 | Q14203 | 3D-structure;-Alternative-splicing;-Amyotrophic-lateral-sclerosis;Coiled-coil;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Dynein;Microtubule;-Neurodegeneration;-Parkinsonism;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transport;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 74596516-74596526;M1;74596527-74596555 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs17721059). | 3 | 2 | 283 | Unknown | 3.2064381489 |
2160.30061421,5807.84483542 |
0.000000 |
| 1776 | mutation | R.EQLDMAGAQ:VR.E | R | Q | 478 | 9 | 1 | DCTN1 | E7EX90 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EX90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74596516-74596526;M1;74596527-74596555 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 2 | 283 | Unknown | 3.2064381489 |
2160.30061421,5807.84483542 |
0.000000 |
| 1777 | mutation | R.LNSWFQHRPPGAS:PER.Y | P | S | 187 | 13 | 1 | MOGS | C9J8D4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J8D4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74690024-74690038;M1;74690039-74690078 | 1 | 16 | 10 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 21 | 29 | 5081 | Unknown | 3.20861890984 |
2146.87388739,5807.84483542 |
1.728186 |
| 1777 | mutation | R.LNSWFQHRPPGAS:PER.Y | P | S | 293 | 13 | 1 | MOGS | Q13724 | Alternative-splicing;-Complete-proteome;-Disease-mutation;Endoplasmic-reticulum;-Glycoprotein;-Glycosidase;-Hydrolase;-Membrane;Polymorphism;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr2 | 74690024-74690038;M1;74690039-74690078 | 1 | 16 | 10 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | P->S(indbSNP:rs2268416). | 21 | 29 | 5081 | Lumenal | 3.20861890984 |
2146.87388739,5807.84483542 |
1.728186 |
| 1778 | mutation | K.FISGHTSELGN:FR.F | D | N | 133 | 11 | 1 | MOGS | C9J8D4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J8D4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74690366-74690377;M1;74690378-74690411 | 1 | 11 | 24 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 51 | 27 | 5478 | Unknown | 3.20861890984 |
2146.87388739,5807.84483542 |
0.000000 |
| 1778 | mutation | K.FISGHTSELGN:FR.F | D | N | 120 | 11 | 1 | MOGS | C9JDQ1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JDQ1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 74690366-74690377;M1;74690378-74690411 | 1 | 11 | 24 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 51 | 27 | 5478 | Unknown | 3.20861890984 |
2146.87388739,5807.84483542 |
0.000000 |
| 1778 | mutation | K.FISGHTSELGN:FR.F | D | N | 239 | 11 | 1 | MOGS | Q13724 | Alternative-splicing;-Complete-proteome;-Disease-mutation;Endoplasmic-reticulum;-Glycoprotein;-Glycosidase;-Hydrolase;-Membrane;Polymorphism;-Reference-proteome;-Signal-anchor;-Transmembrane; | Membrane-Bound | Atlas | chr2 | 74690366-74690377;M1;74690378-74690411 | 1 | 11 | 24 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | D->N(indbSNP:rs1063588). | 51 | 27 | 5478 | Lumenal | 3.20861890984 |
2146.87388739,5807.84483542 |
0.000000 |
| 1779 | mutation | K.:ILHIPEFYV:GSILR.V | V | I | 105 | 1 | 1 | MRPL19 | A0A0A0MRF4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRF4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 75879355-75879358;M1;75879359-75879386;75879648-75879665 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 1 | 246 | Unknown | 2.32271024333 |
3057.03378622,5807.84483542 |
2.000000 |
| 1779 | mutation | K.:ILHIPEFYV:GSILR.V | V | I | 105 | 1 | 1 | MRPL19 | P49406 | 3D-structure;-Complete-proteome;-Mitochondrion;-Phosphoprotein;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein; | Intracellular | Atlas | chr2 | 75879355-75879358;M1;75879359-75879386;75879648-75879665 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 1 | 246 | Unknown | 2.32271024333 |
3057.03378622,5807.84483542 |
2.000000 |
| 1779 | mutation | K.:ILHIPEFYV:GSILR.V | V | I | 7 | 1 | 1 | MRPL19 | S4R3W9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R3W9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 75879355-75879358;M1;75879359-75879386;75879648-75879665 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 6 | 1 | 246 | Unknown | 2.32271024333 |
3057.03378622,5807.84483542 |
2.000000 |
| 1780 | mutation | R.VILEEHSA:CENEVSK.S | T | A | 594 | 8 | 2 | GCFC2 | P16383 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-DNA-binding;mRNA-processing;-mRNA-splicing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repressor;-Transcription; | Intracellular | Atlas | chr2 | 75907324-75907350;M1;75907351-75907375 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs6722682). | 12 | 27 | 1314 | Unknown | -0.59382870406 |
6523.72427437,5807.84483542 |
2.218663 |
| 1781 | mutation | R.VQEQELE:SEFEQ:NLSEK.L | K | E | 361 | 7 | 1 | IMMT | H7C463 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:H7C463,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86373302-86373320;86374824-86374841;M1;86374842-86374863 | 1 | 4 | 64 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 94 | 1 | 242 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
1.584963 |
| 1781 | mutation | R.VQEQELE:SEFEQ:NLSEK.L | K | E | 506 | 7 | 1 | IMMT | Q16891 | Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transit-peptide;-Transmembrane; | Membrane-Bound | Atlas | chr2 | 86373302-86373320;86374824-86374841;M1;86374842-86374863 | 1 | 4 | 64 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 94 | 1 | 242 | Mitochondrial intermembrane | 4.64516857152 |
1063.27807689,5807.84483542 |
1.584963 |
| 1781 | mutation | R.VQEQELE:SEFEQ:NLSEK.L | K | E | 407 | 7 | 1 | IMMT | C9J406 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:C9J406,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86373302-86373320;86374824-86374841;M1;86374842-86374863 | 1 | 4 | 64 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 94 | 1 | 242 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
1.584963 |
| 1781 | mutation | R.VQEQELE:SEFEQ:NLSEK.L | K | E | 459 | 7 | 1 | IMMT | B9A067 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Mitochondrion-inner-membrane-{ECO:0000256|RuleBase:RU363000,Proteomics-identification-{ECO:0000213|EPD:B9A067,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAAS:SAAS00428743}. | Intracellular | Atlas | chr2 | 86373302-86373320;86374824-86374841;M1;86374842-86374863 | 1 | 4 | 64 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 94 | 1 | 242 | Unknown | 4.64516857152 |
1063.27807689,5807.84483542 |
1.584963 |
| 1782 | mutation | R.EDPNLVPSIS:SK.R | N | S | 85 | 11 | 1 | COX5B | P10606 | Acetylation;-Complete-proteome;-Direct-protein-sequencing;-Membrane;Metal-binding;-Mitochondrion;-Mitochondrion-inner-membrane;Reference-proteome;-Transit-peptide;-Zinc. | Intracellular | Atlas | chr2 | 98263848-98263882;M1;98263883-98263890 | 1 | 6 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 2 | 500 | Unknown | 5.26567126619 |
790.542963201,5807.84483542 |
0.000000 |
| 1783 | mutation | K.LPQGLP:TEENMSNTCLK.S | A | T | 130 | 7 | 2 | MRPL30 | Q8TCC3 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Mitochondrion;Polymorphism;-Reference-proteome;-Ribonucleoprotein;Ribosomal-protein;-Transit-peptide. | Intracellular | Atlas | chr2 | 99812048-99812069;M1;99812070-99812105 | 2 | 1 | 28 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1044575). | 1 | 57 | 9449 | Unknown | 1.68313120442 |
3671.5291563,5807.84483542 |
0.000000 |
| 1784 | mutation | R.E:RPLSAENPGGEPEAPGEGGPAPEPR.A | D | E | 110 | 1 | 1 | LONRF2 | Q1L5Z9 | Alternative-splicing;-Complete-proteome;-Metal-binding;-Polymorphism;Reference-proteome;-Repeat;-TPR-repeat;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr2 | 100938147-100938225;M1;100938226-100938231 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 35 | 344 | Unknown | -1.88580387934 |
7875.72225479,5807.84483542 |
0.000000 |
| 1785 | mutation | K.STVL:SNGEAAMQSSNSESK.K | T | S | 94 | 5 | 1 | DDX18 | Q9NVP1 | 3D-structure;-ATP-binding;-Chromosome;-Complete-proteome;Direct-protein-sequencing;-Helicase;-Hydrolase;-Nucleotide-binding;Nucleus;-Polymorphism;-Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr2 | 118575198-118575214;M1;118575215-118575261 | 1 | 3 | 8 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs1052637). | 1 | 39 | 6565 | Unknown | 3.21995916219 |
2145.91836125,5807.84483542 |
0.000000 |
| 1786 | mutation | K.:VQAQHDYTATDTDELQLR:.A | K | R | 542 | 18 | 1 | BIN1 | O00499 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Developmental-protein;-Differentiation;Disease-mutation;-Endocytosis;-Host-virus-interaction;-Nucleus;Phosphoprotein;-Reference-proteome;-SH3-domain;-Tumor-suppressor. | Intracellular | Atlas | chr2 | 127808041-127808045;M1;127808046-127808098;127808377-127808380 | 1 | 0 | 3 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 224 | Unknown | 2.06021019811 |
3412.00329141,5807.84483542 |
0.000000 |
| 1788 | mutation | K.EHL:PDEFIKDEQNK:.G | S | L | 16 | 3 | 1 | NMI | Q13287 | Complete-proteome;-Cytoplasm;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr2 | 152138554-152138557;152139381-152139415;M1;152139416-152139426 | 2 | 1 | 20 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs1048135). | 12 | 40 | 7538 | Unknown | 3.17340323506 |
2113.61276817,5807.84483542 |
0.000000 |
| 1788 | mutation | K.EHL:PDEFIKDEQNK:.G | S | L | 16 | 3 | 1 | NMI | C9JW17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JW17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 152138554-152138557;152139381-152139415;M1;152139416-152139426 | 2 | 1 | 20 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 12 | 40 | 7538 | Unknown | 3.17340323506 |
2113.61276817,5807.84483542 |
0.000000 |
| 1789 | mutation | K.NL:VAQISALALQLDSEDLHNYSGSQLFEMHEK.L | L | V | 2418 | 3 | 1 | RIF1 | Q5UIP0 | Alternative-splicing;-Cell-cycle;-Chromosome;-Complete-proteome;Cytoplasm;-Cytoskeleton;-DNA-damage;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Telomere. | Intracellular | Atlas | chr2 | 152331408-152331417;M1;152331418-152331510 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs1065177). | 1 | 63 | 3478 | Unknown | 0.356622649148 |
5462.87727601,5807.84483542 |
2.144189 |
| 1789 | mutation | K.NL:VAQISALALQLDSEDLHNYSGSQLFEMHEK.L | L | V | 692 | 3 | 1 | RIF1 | H7C2B5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C2B5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 152331408-152331417;M1;152331418-152331510 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 63 | 3478 | Unknown | 0.356622649148 |
5462.87727601,5807.84483542 |
2.144189 |
| 1790 | mutation | K.MDDKDAAA:VCQPSAGVHIVMPGYY:SPESMGLLDPATSDGR.V | I | V | 308 | 9 | 1 | GPD2 | F5GYK7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5GYK7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 157407181-157407208;M1;157407209-157407258;157413900-157413949 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 6 | 63 | Unknown | 4.49166881091 |
1123.90570856,5807.84483542 |
0.000000 |
| 1790 | mutation | K.MDDKDAAA:VCQPSAGVHIVMPGYY:SPESMGLLDPATSDGR.V | I | V | 308 | 9 | 1 | GPD2 | P43304 | Alternative-splicing;-Calcium;-Complete-proteome;Direct-protein-sequencing;-FAD;-Flavoprotein;-Metal-binding;Mitochondrion;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Transit-peptide. | Intracellular | Atlas | chr2 | 157407181-157407208;M1;157407209-157407258;157413900-157413949 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 6 | 63 | Unknown | 4.49166881091 |
1123.90570856,5807.84483542 |
0.000000 |
| 1791 | mutation | K.IQTLDALND:TLEK:.L | A | T | 66 | 10 | 1 | DAPL1 | A0PJW8 | Apoptosis;-Complete-proteome;-Differentiation;-Polymorphism; | Intracellular | Atlas | chr2 | 159663585-159663615;M1;159663616-159663627;159672216-159672219 | 2 | 3 | 45 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs10497199). | 1 | 57 | 7258 | Unknown | 1.41379353883 |
4052.82591196,5807.84483542 |
0.000000 |
| 1792 | mutation | T.EETLFEIQ:RIDPIASAIQNLK.T | G | R | 183 | 9 | 1 | TANK | H7C3L4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C3L4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 162087807-162087834;M1;162087835-162087876 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 455 | Unknown | 0.748261384013 |
4936.93893075,5807.84483542 |
0.000000 |
| 1792 | mutation | T.EETLFEIQ:RIDPIASAIQNLK.T | G | R | 292 | 9 | 1 | TANK | Q92844 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr2 | 162087807-162087834;M1;162087835-162087876 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | G->R(indbSNP:rs10183668). | 1 | 2 | 455 | Unknown | 0.748261384013 |
4936.93893075,5807.84483542 |
0.000000 |
| 1792 | mutation | T.EETLFEIQ:RIDPIASAIQNLK.T | G | R | 292 | 9 | 1 | TANK | E7EQA9 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQA9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 162087807-162087834;M1;162087835-162087876 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 455 | Unknown | 0.748261384013 |
4936.93893075,5807.84483542 |
0.000000 |
| 1792 | mutation | T.EETLFEIQ:RIDPIASAIQNLK.T | G | R | 47 | 9 | 1 | TANK | H7BZ28 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BZ28,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 162087807-162087834;M1;162087835-162087876 | 1 | 4 | 3 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 2 | 455 | Unknown | 0.748261384013 |
4936.93893075,5807.84483542 |
0.000000 |
| 1793 | mutation | R.ADESTYVLVAHSGSGVIER:.E | H | R | 843 | 19 | 1 | IFIH1 | Q9BYX4 | 3D-structure;-Aicardi-Goutieres-syndrome;-Alternative-splicing;Antiviral-defense;-ATP-binding;-Complete-proteome;-Cytoplasm;Diabetes-mellitus;-Disease-mutation;-Helicase;-Host-virus-interaction;Hydrolase;-Immunity;-Innate-immunity;-Metal-binding;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr2 | 163128819-163128823;M1;163128824-163128882 | 1 | 0 | 7 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(indbSNP:rs3747517). | 20 | 75 | 8536 | Unknown | 0.0285975487351 |
5781.39173891,5807.84483542 |
3.459432 |
| 1794 | mutation | R.CLTQ:AGINGTYS:PFSLETCR.I | S | A | 61 | 5 | 1 | GCA | H7BXD5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXD5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 163208877-163208892;M1;163208893-163208917;163212947-163212973 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 15 | 33 | 2733 | Unknown | 3.58941185996 |
1731.32053297,5807.84483542 |
0.000000 |
| 1794 | mutation | R.CLTQ:AGINGTYS:PFSLETCR.I | S | A | 61 | 5 | 1 | GCA | C9JV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JV47,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 163208877-163208892;M1;163208893-163208917;163212947-163212973 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 15 | 33 | 2733 | Unknown | 3.58941185996 |
1731.32053297,5807.84483542 |
0.000000 |
| 1794 | mutation | R.CLTQ:AGINGTYS:PFSLETCR.I | S | A | 80 | 5 | 1 | GCA | P28676 | 3D-structure;-Calcium;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Membrane;-Metal-binding;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 163208877-163208892;M1;163208893-163208917;163212947-163212973 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs17783344). | 15 | 33 | 2733 | Unknown | 3.58941185996 |
1731.32053297,5807.84483542 |
0.000000 |
| 1794 | mutation | R.CLTQ:AGINGTYS:PFSLETCR.I | S | A | 106 | 5 | 1 | GCA | C9JWQ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JWQ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 163208877-163208892;M1;163208893-163208917;163212947-163212973 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 15 | 33 | 2733 | Unknown | 3.58941185996 |
1731.32053297,5807.84483542 |
0.000000 |
| 1794 | mutation | R.CLTQ:AGINGTYS:PFSLETCR.I | S | A | 61 | 5 | 1 | GCA | C9JIZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JIZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 163208877-163208892;M1;163208893-163208917;163212947-163212973 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 15 | 33 | 2733 | Unknown | 3.58941185996 |
1731.32053297,5807.84483542 |
0.000000 |
| 1795 | mutation | R.DI:GTAPFAPNLEEINNILESK.F | T | I | 938 | 2 | 1 | COBLL1 | A0A0D9SG04 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0D9SG04,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 165551342-165551403;M1;165551404-165551411 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 10 | 351 | Unknown | -0.842947843791 |
6708.34567502,5807.84483542 |
2.692272 |
| 1795 | mutation | R.DI:GTAPFAPNLEEINNILESK.F | T | I | 909 | 2 | 1 | COBLL1 | Q53SF7 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Phosphoprotein;Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 165551342-165551403;M1;165551404-165551411 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 10 | 351 | Unknown | -0.842947843791 |
6708.34567502,5807.84483542 |
2.692272 |
| 1796 | mutation | K.SDSELN:NEVAAR.K | S | N | 266 | 7 | 1 | CYBRD1 | Q53TN4 | Alternative-splicing;-Complete-proteome;-Electron-transport;Glycoprotein;-Heme;-Iron;-Membrane;-Metal-binding;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr2 | 172411250-172411272;M1;172411273-172411292 | 2 | 2 | 87 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs10455). | 107 | 78 | 14010 | Intra-Cellular-Peptide | 1.20907236482 |
4343.19598497,5807.84483542 |
2.223816 |
| 1797 | mutation | R.ALS:DQINIFFDYSGR.D | E | D | 239 | 4 | 1 | DYNC1I2 | Q13409 | Acetylation;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Dynein;Host-virus-interaction;-Microtubule;-Motor-protein;-Phosphoprotein;Reference-proteome;-Repeat;-Transport;-WD-repeat. | Intracellular | Atlas | chr2 | 172582523-172582537;M1;172582538-172582574 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.22241997813 |
2133.03000913,5807.84483542 |
0.000000 |
| 1797 | mutation | R.ALS:DQINIFFDYSGR.D | E | D | 233 | 4 | 1 | DYNC1I2 | E7EV09 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EV09,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 172582523-172582537;M1;172582538-172582574 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.22241997813 |
2133.03000913,5807.84483542 |
0.000000 |
| 1797 | mutation | R.ALS:DQINIFFDYSGR.D | E | D | 213 | 4 | 1 | DYNC1I2 | E7EQL5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQL5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 172582523-172582537;M1;172582538-172582574 | 1 | 1 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 250 | Unknown | 3.22241997813 |
2133.03000913,5807.84483542 |
0.000000 |
| 1798 | mutation | R.VSALNVLQ:DLGIFGLYK:.G | R | Q | 473 | 8 | 1 | SLC25A12 | O75746 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Complete-proteome;-Disease-mutation;-Membrane;-Metal-binding;Mitochondrion;-Mitochondrion-inner-membrane;-Polymorphism;Reference-proteome;-Repeat;-Transmembrane;-Transmembrane-helix; | Membrane-Bound | Atlas | chr2 | 172648096-172648099;172650136-172650164;M1;172650165-172650190 | 1 | 3 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs35565687). | 1 | 4 | 240 | Targetable-Peptide | 3.28995544035 |
2056.94150212,5807.84483542 |
0.000000 |
| 1799 | mutation | K.C:DPGALVIPFSGALELK.L | Y | C | 274 | 1 | 1 | OLA1 | J3KQ32 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KQ32,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 174946707-174946759;M1;174946760-174946764 | 2 | 2 | 37 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 26 | 5712 | Unknown | 4.68230181699 |
1042.34059241,5807.84483542 |
0.000000 |
| 1799 | mutation | K.C:DPGALVIPFSGALELK.L | Y | C | 254 | 1 | 1 | OLA1 | Q9NTK5 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Cytoplasm;-Hydrolase;-Magnesium;-Metal-binding;Nucleotide-binding;-Nucleus;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 174946707-174946759;M1;174946760-174946764 | 2 | 2 | 37 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 26 | 5712 | Unknown | 4.68230181699 |
1042.34059241,5807.84483542 |
0.000000 |
| 1800 | mutation | K.EEVKEPPGTN:IVILEYAHR.L | T | I | 56 | 11 | 2 | C2orf88 | H7BZ15 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7BZ15,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 191064718-191064752;M1;191064753-191064781 | 2 | 2 | 9 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 9 | 40 | 5456 | Unknown | 1.76646166037 |
3682.90080654,5807.84483542 |
1.000000 |
| 1800 | mutation | K.EEVKEPPGTN:IVILEYAHR.L | T | I | 56 | 11 | 2 | C2orf88 | Q9BSF0 | 3D-structure;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Lipoprotein;-Membrane;-Myristate;Palmitate;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr2 | 191064718-191064752;M1;191064753-191064781 | 2 | 2 | 9 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs6753459). | 9 | 40 | 5456 | Unknown | 1.76646166037 |
3682.90080654,5807.84483542 |
1.000000 |
| 1801 | mutation | K.SFILEEHMN:K.I | D | N | 260 | 9 | 1 | HIBCH | A0A087WXI1 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110884-191110892;M1;191110893-191110920 | 1 | 0 | 22 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 52 | 1 | 181 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
1.584963 |
| 1801 | mutation | K.SFILEEHMN:K.I | D | N | 17 | 9 | 1 | HIBCH | H7C1A5 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C1A5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110884-191110892;M1;191110893-191110920 | 1 | 0 | 22 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 52 | 1 | 181 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
1.584963 |
| 1801 | mutation | K.SFILEEHMN:K.I | D | N | 266 | 9 | 1 | HIBCH | Q6NVY1 | 3D-structure;-Acetylation;-Alternative-splicing;Branched-chain-amino-acid-catabolism;-Complete-proteome;Disease-mutation;-Hydrolase;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr2 | 191110884-191110892;M1;191110893-191110920 | 1 | 0 | 22 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 52 | 1 | 181 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
1.584963 |
| 1801 | mutation | K.SFILEEHMN:K.I | D | N | 46 | 9 | 1 | HIBCH | F8W8A6 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W8A6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110884-191110892;M1;191110893-191110920 | 1 | 0 | 22 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 52 | 1 | 181 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
1.584963 |
| 1801 | mutation | K.SFILEEHMN:K.I | D | N | 43 | 9 | 1 | HIBCH | B9A058 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B9A058,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110884-191110892;M1;191110893-191110920 | 1 | 0 | 22 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 52 | 1 | 181 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
1.584963 |
| 1802 | mutation | K.ENIASVLD:NYHTE:SK.I | E | D | 239 | 8 | 1 | HIBCH | A0A087WXI1 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110929-191110938;191114365-191114380;M1;191114381-191114407 | 1 | 3 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 273 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1802 | mutation | K.ENIASVLD:NYHTE:SK.I | E | D | 245 | 8 | 1 | HIBCH | Q6NVY1 | 3D-structure;-Acetylation;-Alternative-splicing;Branched-chain-amino-acid-catabolism;-Complete-proteome;Disease-mutation;-Hydrolase;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr2 | 191110929-191110938;191114365-191114380;M1;191114381-191114407 | 1 | 3 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 273 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1802 | mutation | K.ENIASVLD:NYHTE:SK.I | E | D | 25 | 8 | 1 | HIBCH | F8W8A6 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W8A6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110929-191110938;191114365-191114380;M1;191114381-191114407 | 1 | 3 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 273 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1802 | mutation | K.ENIASVLD:NYHTE:SK.I | E | D | 22 | 8 | 1 | HIBCH | B9A058 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B9A058,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191110929-191110938;191114365-191114380;M1;191114381-191114407 | 1 | 3 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 273 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1803 | mutation | K.GCA:GVITLNRPK.F | T | A | 41 | 3 | 1 | HIBCH | A0A087WXI1 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXI1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191161589-191161621;M1;191161622-191161631 | 2 | 2 | 61 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 62 | 8171 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1803 | mutation | K.GCA:GVITLNRPK.F | T | A | 46 | 3 | 1 | HIBCH | Q6NVY1 | 3D-structure;-Acetylation;-Alternative-splicing;Branched-chain-amino-acid-catabolism;-Complete-proteome;Disease-mutation;-Hydrolase;-Mitochondrion;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr2 | 191161589-191161621;M1;191161622-191161631 | 2 | 2 | 61 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(indbSNP:rs1058180). | 1 | 62 | 8171 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1803 | mutation | K.GCA:GVITLNRPK.F | T | A | 100 | 3 | 1 | HIBCH | B8ZZZ0 | Branched-chain-amino-acid-catabolism-{ECO:0000256|RuleBase:RU363052};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B8ZZZ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transit-peptide-{ECO:0000256|RuleBase:RU363052}. | Intracellular | Atlas | chr2 | 191161589-191161621;M1;191161622-191161631 | 2 | 2 | 61 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 62 | 8171 | Unknown | 4.31024354595 |
1218.95258807,5807.84483542 |
0.000000 |
| 1804 | mutation | E.QLLQ:PNPVLE:AFGNAK.T | S | P | 145 | 5 | 1 | MYO1B | E9PDF6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Motor-protein-{ECO:0000256|SAAS:SAAS00476553};Proteomics-identification-{ECO:0000213|EPD:E9PDF6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 192206257-192206272;M1;192206273-192206291;192210961-192210981 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 1 | 9 | Unknown | 2.55310680618 |
2841.19846189,5807.84483542 |
0.000000 |
| 1804 | mutation | E.QLLQ:PNPVLE:AFGNAK.T | S | P | 145 | 5 | 1 | MYO1B | C9JYW1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JYW1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 192206257-192206272;M1;192206273-192206291;192210961-192210981 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 1 | 9 | Unknown | 2.55310680618 |
2841.19846189,5807.84483542 |
0.000000 |
| 1804 | mutation | E.QLLQ:PNPVLE:AFGNAK.T | S | P | 145 | 5 | 1 | MYO1B | E7EQD9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EQD9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 192206257-192206272;M1;192206273-192206291;192210961-192210981 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 1 | 9 | Unknown | 2.55310680618 |
2841.19846189,5807.84483542 |
0.000000 |
| 1804 | mutation | E.QLLQ:PNPVLE:AFGNAK.T | S | P | 145 | 5 | 1 | MYO1B | O43795 | Actin-binding;-Alternative-splicing;-ATP-binding;-Calmodulin-binding;Complete-proteome;-Isopeptide-bond;-Motor-protein;-Myosin;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 192206257-192206272;M1;192206273-192206291;192210961-192210981 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 3 | 1 | 9 | Unknown | 2.55310680618 |
2841.19846189,5807.84483542 |
0.000000 |
| 1805 | mutation | K.SQDKDVS:EG:ETSDGVR.K | N | S | 70 | 7 | 1 | GTF3C3 | Q9Y5Q9 | Acetylation;-Alternative-splicing;-Complete-proteome;-DNA-binding;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;TPR-repeat;-Transcription. | Intracellular | Atlas | chr2 | 197657850-197657876;197662520-197662525;M1;197662526-197662548 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs11559078). | 4 | 8 | 626 | Unknown | 1.264658542 |
4400.19056081,5807.84483542 |
1.542481 |
| 1806 | mutation | K.YGPADVEDTT:R.S | G | R | 89 | 11 | 1 | EEF1B2 | C9JZW3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JZW3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 207026097-207026130;M1;207026131-207026136 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 248 | Unknown | 5.30617628301 |
786.853571407,5807.84483542 |
0.000000 |
| 1806 | mutation | K.YGPADVEDTT:R.S | G | R | 89 | 11 | 1 | EEF1B2 | P24534 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Elongation-factor;-Phosphoprotein;Protein-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr2 | 207026097-207026130;M1;207026131-207026136 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 248 | Unknown | 5.30617628301 |
786.853571407,5807.84483542 |
0.000000 |
| 1807 | mutation | R.GATYNI:IVEALKDQQR.H | V | I | 2170 | 6 | 1 | FN1 | P02751 | 3D-structure;-Acute-phase;-Alternative-splicing;-Angiogenesis;Cell-adhesion;-Cell-shape;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Heparin-binding;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr2 | 216235053-216235088;M1;216235089-216235107 | 4 | 1 | 1015 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs1250209). | 86 | 67 | 15383 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1807 | mutation | R.GATYNI:IVEALKDQQR.H | V | I | 887 | 6 | 1 | FN1 | H0Y7Z1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7Z1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 216235053-216235088;M1;216235089-216235107 | 4 | 1 | 1015 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 86 | 67 | 15383 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1808 | mutation | K.TD:ELPQLVTLPHPD:LHGPEILDVPSTVQK.T | N | D | 2004 | 14 | 1 | FN1 | P02751 | 3D-structure;-Acute-phase;-Alternative-splicing;-Angiogenesis;Cell-adhesion;-Cell-shape;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Heparin-binding;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr2 | 216237012-216237062;M1;216237063-216237098;216238044-216238051 | 2 | 4 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 10 | 2277 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1808 | mutation | K.TD:ELPQLVTLPHPD:LHGPEILDVPSTVQK.T | N | D | 721 | 14 | 1 | FN1 | H0Y7Z1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7Z1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 216237012-216237062;M1;216237063-216237098;216238044-216238051 | 2 | 4 | 3 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 10 | 2277 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1809 | mutation | R.FLATTPD:SLLVSWQPPR.A | N | D | 36 | 7 | 1 | FN1 | H0Y4K8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4K8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 216240036-216240071;M1;216240072-216240093 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 13 | 3248 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1809 | mutation | R.FLATTPD:SLLVSWQPPR.A | N | D | 1917 | 7 | 1 | FN1 | P02751 | 3D-structure;-Acute-phase;-Alternative-splicing;-Angiogenesis;Cell-adhesion;-Cell-shape;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Heparin-binding;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr2 | 216240036-216240071;M1;216240072-216240093 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 13 | 3248 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1809 | mutation | R.FLATTPD:SLLVSWQPPR.A | N | D | 634 | 7 | 1 | FN1 | H0Y7Z1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7Z1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 216240036-216240071;M1;216240072-216240093 | 1 | 2 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 13 | 3248 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1810 | mutation | K.EINLAPDSSSVVVSGLT::VATK.- | M | T | 1783 | 17 | 1 | FN1 | P02751 | 3D-structure;-Acute-phase;-Alternative-splicing;-Angiogenesis;Cell-adhesion;-Cell-shape;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Heparin-binding;-Isopeptide-bond;Phosphoprotein;-Polymorphism;-Pyrrolidone-carboxylic-acid;Reference-proteome;-Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr2 | 216242973-216242985;216243852-216243853;M1;216243854-216243906 | 1 | 4 | 13 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 34 | 1 | 250 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1810 | mutation | K.EINLAPDSSSVVVSGLT::VATK.- | M | T | 500 | 17 | 1 | FN1 | H0Y7Z1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y7Z1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 216242973-216242985;216243852-216243853;M1;216243854-216243906 | 1 | 4 | 13 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 34 | 1 | 250 | Unknown | 5.55098057581 |
710.5293712,5807.84483542 |
0.000000 |
| 1811 | mutation | K.DQVT:SQEIFQD:NHEDGPTAK.K | A | S | 550 | 5 | 1 | XRCC5 | P13010 | 3D-structure;-Acetylation;-Activator;-ATP-binding;-Chromosome;Complete-proteome;-Direct-protein-sequencing;-DNA-damage;DNA-recombination;-DNA-repair;-DNA-binding;-Helicase;-Hydrolase;Isopeptide-bond;-Nucleotide-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Systemic-lupus-erythematosus;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 217012961-217012976;M1;217012977-217012999;217024790-217024818 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 29 | 593 | Unknown | 5.25888331989 |
796.812818319,5807.84483542 |
0.000000 |
| 1812 | mutation | R.KQGSTTDNACHLFAELDPNQPASAIVS:FVSK.V | N | S | 833 | 27 | 1 | TNS1 | H0Y4U1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4U1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218669208-218669224;M1;218669225-218669307 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 9 | 922 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
1.773976 |
| 1812 | mutation | R.KQGSTTDNACHLFAELDPNQPASAIVS:FVSK.V | N | S | 1701 | 27 | 1 | TNS1 | E9PGF5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGF5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218669208-218669224;M1;218669225-218669307 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 9 | 922 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
1.773976 |
| 1812 | mutation | R.KQGSTTDNACHLFAELDPNQPASAIVS:FVSK.V | N | S | 1352 | 27 | 1 | TNS1 | A0A087WWW7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWW7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218669208-218669224;M1;218669225-218669307 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 9 | 922 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
1.773976 |
| 1812 | mutation | R.KQGSTTDNACHLFAELDPNQPASAIVS:FVSK.V | N | S | 1722 | 27 | 1 | TNS1 | Q9HBL0 | Actin-binding;-Alternative-splicing;-Cell-junction;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-SH2-domain. | Intracellular | Atlas | chr2 | 218669208-218669224;M1;218669225-218669307 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 9 | 922 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
1.773976 |
| 1812 | mutation | R.KQGSTTDNACHLFAELDPNQPASAIVS:FVSK.V | N | S | 1708 | 27 | 1 | TNS1 | E9PF55 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PF55,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218669208-218669224;M1;218669225-218669307 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 9 | 922 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
1.773976 |
| 1813 | mutation | R.TVGTNTPPSPGFGR:.R | W | R | 308 | 14 | 1 | TNS1 | H0Y4U1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4U1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218683148-218683153;M1;218683154-218683196 | 2 | 10 | 11 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 59 | 8902 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
0.000000 |
| 1813 | mutation | R.TVGTNTPPSPGFGR:.R | W | R | 1176 | 14 | 1 | TNS1 | E9PGF5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PGF5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218683148-218683153;M1;218683154-218683196 | 2 | 10 | 11 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 59 | 8902 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
0.000000 |
| 1813 | mutation | R.TVGTNTPPSPGFGR:.R | W | R | 827 | 14 | 1 | TNS1 | A0A087WWW7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WWW7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218683148-218683153;M1;218683154-218683196 | 2 | 10 | 11 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 59 | 8902 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
0.000000 |
| 1813 | mutation | R.TVGTNTPPSPGFGR:.R | W | R | 1197 | 14 | 1 | TNS1 | Q9HBL0 | Actin-binding;-Alternative-splicing;-Cell-junction;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;-Phosphoprotein;Polymorphism;-Reference-proteome;-SH2-domain. | Intracellular | Atlas | chr2 | 218683148-218683153;M1;218683154-218683196 | 2 | 10 | 11 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | W->R(indbSNP:rs2571445). | 1 | 59 | 8902 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
0.000000 |
| 1813 | mutation | R.TVGTNTPPSPGFGR:.R | W | R | 1184 | 14 | 1 | TNS1 | E9PF55 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PF55,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH2-domain-{ECO:0000256|SAAS:SAAS00602292}. | Intracellular | Atlas | chr2 | 218683148-218683153;M1;218683154-218683196 | 2 | 10 | 11 | 1 | 0 | 1 | 1 | 255 | 225 | -30 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 59 | 8902 | Unknown | 2.07441123619 |
3410.50135852,5807.84483542 |
0.000000 |
| 1814 | mutation | R.DLGEGEEGELAPPEDLLG:HPQALSR.Q | R | H | 374 | 19 | 1 | FAM134A | Q8NC44 | Complete-proteome;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr2 | 220046781-220046839;M1;220046840-220046862 | 1 | 2 | 4 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs3210652). | 12 | 20 | 4913 | Targetable-Peptide | -0.0588090996117 |
5996.68586732,5807.84483542 |
0.000000 |
| 1814 | mutation | R.DLGEGEEGELAPPEDLLG:HPQALSR.Q | R | H | 69 | 19 | 1 | FAM134A | H7C3D5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C3D5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 220046781-220046839;M1;220046840-220046862 | 1 | 2 | 4 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 12 | 20 | 4913 | Unknown | -0.0588090996117 |
5996.68586732,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 171 | 12 | 1 | DNPEP | B9ZVU2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B9ZVU2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 171 | 12 | 1 | DNPEP | E7EPX3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EPX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 179 | 12 | 1 | DNPEP | E7ETB3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Protease-{ECO:0000256|RuleBase:RU004386,-ECO:0000313|EMBL:EAW70730.1};Proteomics-identification-{ECO:0000213|EPD:E7ETB3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 96 | 12 | 1 | DNPEP | E7EMB6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMB6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 96 | 12 | 1 | DNPEP | C9JRG3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JRG3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 179 | 12 | 1 | DNPEP | C9JBE1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JBE1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 157 | 12 | 1 | DNPEP | F8WAN0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAN0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 161 | 12 | 1 | DNPEP | Q9ULA0 | 3D-structure;-Acetylation;-Aminopeptidase;-Complete-proteome;Cytoplasm;-Hydrolase;-Metal-binding;-Metalloprotease;-Phosphoprotein;Protease;-Reference-proteome;-Zinc. | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1816 | mutation | R.LEQQLVHVERPV:LR.I | I | V | 96 | 12 | 1 | DNPEP | C9J1E2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J1E2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 220250757-220250768;M1;220250769-220250805 | 1 | 3 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 4 | 1000 | Unknown | 3.87036747064 |
1541.30535458,5807.84483542 |
0.000000 |
| 1817 | mutation | R.SVNSLDGLA:AVLYPGCDTLDK.V | S | A | 79 | 10 | 1 | ACSL3 | O95573 | ATP-binding;-Complete-proteome;-Endoplasmic-reticulum;Fatty-acid-metabolism;-Ligase;-Lipid-metabolism;-Magnesium;-Membrane;Microsome;-Mitochondrion;-Mitochondrion-outer-membrane;Nucleotide-binding;-Peroxisome;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr2 | 223773694-223773724;M1;223773725-223773763 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 235 | Unknown-Pep-localization | 2.21436727277 |
3256.1893873,5807.84483542 |
0 |
| 1817 | mutation | R.SVNSLDGLA:AVLYPGCDTLDK.V | S | A | 79 | 10 | 1 | ACSL3 | F5H062 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H062,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr2 | 223773694-223773724;M1;223773725-223773763 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 235 | Targetable-Peptide | 2.21436727277 |
3256.1893873,5807.84483542 |
0 |
| 1818 | mutation | R.SVSSFPVPQDNVD:AHPGSGK.E | T | A | 317 | 14 | 1 | ATG16L1 | E7EVC7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EVC7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 234183325-234183367;M1;234183368-234183391 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 14 | 59 | 2616 | Unknown | 0.222971852741 |
5625.9763132,5807.84483542 |
2.217755 |
| 1818 | mutation | R.SVSSFPVPQDNVD:AHPGSGK.E | T | A | 137 | 14 | 1 | ATG16L1 | C9JAY7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JAY7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 234183325-234183367;M1;234183368-234183391 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 14 | 59 | 2616 | Unknown | 0.222971852741 |
5625.9763132,5807.84483542 |
2.217755 |
| 1818 | mutation | R.SVSSFPVPQDNVD:AHPGSGK.E | T | A | 300 | 14 | 1 | ATG16L1 | Q676U5 | 3D-structure;-Alternative-splicing;-Autophagy;-Coiled-coil;Complete-proteome;-Cytoplasm;-Membrane;-Phosphoprotein;-Polymorphism;Protein-transport;-Reference-proteome;-Repeat;-Transport;-WD-repeat. | Intracellular | Atlas | chr2 | 234183325-234183367;M1;234183368-234183391 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | T->A(associatedwithsusceptibilityto | 14 | 59 | 2616 | Unknown | 0.222971852741 |
5625.9763132,5807.84483542 |
2.217755 |
| 1819 | mutation | R.VADFYC:LPVEK.I | R | C | 79 | 6 | 1 | USP40 | H7C0C4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7C0C4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 234394466-234394486;M1;234394487-234394505 | 1 | 0 | 42 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 61 | 43 | 2495 | Unknown | -1.22611881595 |
7144.58153218,5807.84483542 |
1.660964 |
| 1819 | mutation | R.VADFYC:LPVEK.I | R | C | 1111 | 6 | 1 | USP40 | Q9NVE5 | Alternative-splicing;-Complete-proteome;-Hydrolase;-Polymorphism;Protease;-Reference-proteome;-Thiol-protease;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr2 | 234394466-234394486;M1;234394487-234394505 | 1 | 0 | 42 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs1048603). | 61 | 43 | 2495 | Unknown | -1.22611881595 |
7144.58153218,5807.84483542 |
1.660964 |
| 1820 | mutation | R.ALGSAIEYTIENVFESD:PNPR.D | A | D | 2730 | 17 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238249353-238249369;M1;238249370-238249422 | 1 | 10 | 1 | 1 | 0 | -1 | -1 | 115 | 150 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 81 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1820 | mutation | R.ALGSAIEYTIENVFESD:PNPR.D | A | D | 2122 | 17 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238249353-238249369;M1;238249370-238249422 | 1 | 10 | 1 | 1 | 0 | -1 | -1 | 115 | 150 | 35 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 81 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1821 | mutation | R.VPQIAFVITGGR:.S | K | R | 1754 | 12 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238275564-238275568;M1;238275569-238275606 | 1 | 11 | 2 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 344 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1821 | mutation | R.VPQIAFVITGGR:.S | K | R | 1147 | 12 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238275564-238275568;M1;238275569-238275606 | 1 | 11 | 2 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 2 | 344 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1822 | mutation | R.SSGIVSLGVGDQ:NIDR.T | R | Q | 1576 | 12 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238277362-238277378;M1;238277379-238277416 | 3 | 8 | 20 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs61729839). | 9 | 1 | 123 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1822 | mutation | R.SSGIVSLGVGDQ:NIDR.T | R | Q | 969 | 12 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238277362-238277378;M1;238277379-238277416 | 3 | 8 | 20 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 1 | 123 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1823 | mutation | K.ISLSPEYVFSVSTFQ:ELPSLEQK.L | R | Q | 1395 | 15 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238280447-238280475;M1;238280476-238280522 | 1 | 12 | 21 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(inUCMD1;dbSNP:rs80272723). | 35 | 1 | 93 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1823 | mutation | K.ISLSPEYVFSVSTFQ:ELPSLEQK.L | R | Q | 788 | 15 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238280447-238280475;M1;238280476-238280522 | 1 | 12 | 21 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 35 | 1 | 93 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1824 | mutation | K.VEFLLNAHSSKE:EVQNAVQR.L | D | E | 1293 | 12 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238280753-238280780;M1;238280781-238280819 | 1 | 11 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 31 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1824 | mutation | K.VEFLLNAHSSKE:EVQNAVQR.L | D | E | 686 | 12 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238280753-238280780;M1;238280781-238280819 | 1 | 11 | 1 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 31 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1825 | mutation | R.LEIGQDLIQVAVAQYAH:.T | D | H | 491 | 17 | 1 | COL6A3 | C9JNG9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JNG9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238289978-238289983;M1;238289984-238290035 | 2 | 12 | 36 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | - | 54 | 4 | 195 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1825 | mutation | R.LEIGQDLIQVAVAQYAH:.T | D | H | 491 | 17 | 1 | COL6A3 | P12111 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Collagen;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Dystonia;-Extracellular-matrix;-Glycoprotein;Hydroxylation;-Phosphoprotein;-Polymorphism;-Protease-inhibitor;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Repeat;-Secreted;Serine-protease-inhibitor;-Signal. | Intracellular | Atlas | chr2 | 238289978-238289983;M1;238289984-238290035 | 2 | 12 | 36 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | D->H(indbSNP:rs112010940). | 54 | 4 | 195 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1825 | mutation | R.LEIGQDLIQVAVAQYAH:.T | D | H | 84 | 17 | 1 | COL6A3 | E7ENL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 238289978-238289983;M1;238289984-238290035 | 2 | 12 | 36 | 1 | -1 | 0 | 1 | 150 | 195 | 45 | -3.200000 | -0.500000 | - | 54 | 4 | 195 | Unknown | 5.30227656133 |
773.799355483,5807.84483542 |
0.000000 |
| 1826 | mutation | K.IAAESSENVDC:LENPK.I | P | L | 645 | 12 | 1 | LRRFIP1 | Q32MZ4 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-DNA-binding;-Isopeptide-bond;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 238672252-238672289;M1;238672290-238672306 | 1 | 16 | 6 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs3739040). | 15 | 3 | 405 | Unknown | 2.77189918628 |
2593.17478574,5807.84483542 |
0.000000 |
| 1827 | mutation | K.ALDSNSLENDDLSAPGREPG:DFNPESR.E | H | D | 783 | 21 | 1 | LRRFIP1 | Q32MZ4 | 3D-structure;-Acetylation;-Alternative-splicing;-Coiled-coil;Complete-proteome;-Cytoplasm;-DNA-binding;-Isopeptide-bond;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr2 | 238672639-238672702;M1;238672703-238672726 | 1 | 13 | 11 | 1 | 0 | -1 | -1 | 195 | 150 | -45 | -3.500000 | Hydrophilic;3.000000 | H->D(indbSNP:rs3739038). | 33 | 32 | 4867 | Unknown | 2.77189918628 |
2593.17478574,5807.84483542 |
0.000000 |
| 1828 | mutation | K.VSGQ:TEVDDILAAVRPTTR.L | A | T | 183 | 5 | 2 | SCLY | A0A0A0MQU4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQU4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 238990372-238990387;M1;238990388-238990435 | 2 | 1 | 43 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 37 | 2454 | Unknown | 1.45343767368 |
4004.55598229,5807.84483542 |
1.836348 |
| 1828 | mutation | K.VSGQ:TEVDDILAAVRPTTR.L | A | T | 19 | 5 | 2 | SCLY | H7C277 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C277,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 238990372-238990387;M1;238990388-238990435 | 2 | 1 | 43 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 37 | 2454 | Unknown | 1.45343767368 |
4004.55598229,5807.84483542 |
1.836348 |
| 1828 | mutation | K.VSGQ:TEVDDILAAVRPTTR.L | A | T | 21 | 5 | 2 | SCLY | H7C1S7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C1S7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 238990372-238990387;M1;238990388-238990435 | 2 | 1 | 43 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 37 | 2454 | Unknown | 1.45343767368 |
4004.55598229,5807.84483542 |
1.836348 |
| 1828 | mutation | K.VSGQ:TEVDDILAAVRPTTR.L | A | T | 89 | 5 | 2 | SCLY | C9JNL5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JNL5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 238990372-238990387;M1;238990388-238990435 | 2 | 1 | 43 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 37 | 2454 | Unknown | 1.45343767368 |
4004.55598229,5807.84483542 |
1.836348 |
| 1828 | mutation | K.VSGQ:TEVDDILAAVRPTTR.L | A | T | 175 | 5 | 2 | SCLY | Q96I15 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Lyase;-Phosphoprotein;-Polymorphism;-Pyridoxal-phosphate;Reference-proteome;-Transferase. | Intracellular | Atlas | chr2 | 238990372-238990387;M1;238990388-238990435 | 2 | 1 | 43 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs3210400). | 1 | 37 | 2454 | Unknown | 1.45343767368 |
4004.55598229,5807.84483542 |
1.836348 |
| 1829 | mutation | R.VITVDGS:ICTGK.G | N | S | 65 | 7 | 1 | NDUFA10 | E7ESZ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESZ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 240961619-240961638;M1;240961639-240961661 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 243 | Unknown | 3.01977701073 |
2316.09194707,5807.84483542 |
0.000000 |
| 1829 | mutation | R.VITVDGS:ICTGK.G | N | S | 65 | 7 | 1 | NDUFA10 | C9J6X0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9J6X0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 240961619-240961638;M1;240961639-240961661 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 243 | Unknown | 3.01977701073 |
2316.09194707,5807.84483542 |
0.000000 |
| 1829 | mutation | R.VITVDGS:ICTGK.G | N | S | 65 | 7 | 1 | NDUFA10 | A0A087WXC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WXC5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 240961619-240961638;M1;240961639-240961661 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 243 | Unknown | 3.01977701073 |
2316.09194707,5807.84483542 |
0.000000 |
| 1829 | mutation | R.VITVDGS:ICTGK.G | N | S | 65 | 7 | 1 | NDUFA10 | O95299 | Alternative-splicing;-Complete-proteome;-Electron-transport;-FAD;Flavoprotein;-Mitochondrion;-Polymorphism;-Reference-proteome;Respiratory-chain;-Transit-peptide;-Transport. | Intracellular | Atlas | chr2 | 240961619-240961638;M1;240961639-240961661 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 243 | Unknown | 3.01977701073 |
2316.09194707,5807.84483542 |
0.000000 |
| 1829 | mutation | R.VITVDGS:ICTGK.G | N | S | 65 | 7 | 1 | NDUFA10 | Q8N1B9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q8N1B9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 240961619-240961638;M1;240961639-240961661 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 243 | Unknown | 3.01977701073 |
2316.09194707,5807.84483542 |
0.000000 |
| 1832 | mutation | K.ITLEGPTEDVS:VAQEQIEGMVK.D | N | S | 296 | 11 | 1 | HDLBP | H7C0A4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0A4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 242192810-242192847;M1;242192848-242192882 | 2 | 1 | 48 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 24 | 5499 | Unknown | 3.99636362875 |
1465.42223233,5807.84483542 |
0.000000 |
| 1832 | mutation | K.ITLEGPTEDVS:VAQEQIEGMVK.D | N | S | 227 | 11 | 1 | HDLBP | H0Y394 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y394,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 242192810-242192847;M1;242192848-242192882 | 2 | 1 | 48 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 24 | 5499 | Unknown | 3.99636362875 |
1465.42223233,5807.84483542 |
0.000000 |
| 1832 | mutation | K.ITLEGPTEDVS:VAQEQIEGMVK.D | N | S | 418 | 11 | 1 | HDLBP | Q00341 | 3D-structure;-Acetylation;-Alternative-splicing;Cholesterol-metabolism;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-HDL;-Lipid-metabolism;-Lipid-transport;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;RNA-binding;-Steroid-metabolism;-Sterol-metabolism;-Transport. | Intracellular | Atlas | chr2 | 242192810-242192847;M1;242192848-242192882 | 2 | 1 | 48 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs7578199). | 3 | 24 | 5499 | Unknown | 3.99636362875 |
1465.42223233,5807.84483542 |
0.000000 |
| 1832 | mutation | K.ITLEGPTEDVS:VAQEQIEGMVK.D | N | S | 418 | 11 | 1 | HDLBP | A0A024R4E5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A024R4E5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 242192810-242192847;M1;242192848-242192882 | 2 | 1 | 48 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 24 | 5499 | Unknown | 3.99636362875 |
1465.42223233,5807.84483542 |
0.000000 |
| 1833 | mutation | A.CLESAQEPA:GAWGNK.I | S | A | 61 | 9 | 1 | HDLBP | Q00341 | 3D-structure;-Acetylation;-Alternative-splicing;Cholesterol-metabolism;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-HDL;-Lipid-metabolism;-Lipid-transport;Nucleus;-Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;RNA-binding;-Steroid-metabolism;-Sterol-metabolism;-Transport. | Intracellular | Atlas | chr2 | 242203892-242203915;M1;242203916-242203943 | 2 | 0 | 128 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs11891776). | 1 | 67 | 15712 | Unknown | 3.99636362875 |
1465.42223233,5807.84483542 |
0.000000 |
| 1834 | mutation | R.HDE:ILTELEK.A | V | I | 643 | 4 | 1 | FARP2 | O94887 | Alternative-splicing;-Complete-proteome;Guanine-nucleotide-releasing-factor;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr2 | 242407575-242407587;M1;242407588-242407611 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs41342147). | 3 | 22 | 588 | Unknown | -0.525531938466 |
6489.78323215,5807.84483542 |
1.528321 |
| 1835 | mutation | R.VPLASQGLGPGSTVLLVVDKCDEPL:NILVR.N | S | N | 83 | 26 | 1 | ISG15 | P05161 | 3D-structure;-Antiviral-defense;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disulfide-bond;-Host-virus-interaction;Immunity;-Innate-immunity;-Isopeptide-bond;-Polymorphism;Reference-proteome;-Repeat;-S-nitrosylation;-Secreted;Ubl-conjugation-pathway. | Intracellular | Atlas | chr1 | 949528-949607;M1;949608-949624 | 1 | 10 | 64 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs1921). | 85 | 44 | 10715 | Unknown | 4.87678134855 |
946.250358748,5807.84483542 |
0.000000 |
| 1835 | mutation | R.VPLASQGLGPGSTVLLVVDKCDEPL:NILVR.N | S | N | 75 | 26 | 1 | ISG15 | A0A096LPJ4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LPJ4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 949528-949607;M1;949608-949624 | 1 | 10 | 64 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 85 | 44 | 10715 | Unknown | 4.87678134855 |
946.250358748,5807.84483542 |
0.000000 |
| 1835 | mutation | R.VPLASQGLGPGSTVLLVVDKCDEPL:NILVR.N | S | N | 75 | 26 | 1 | ISG15 | A0A096LNZ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A096LNZ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 949528-949607;M1;949608-949624 | 1 | 10 | 64 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 85 | 44 | 10715 | Unknown | 4.87678134855 |
946.250358748,5807.84483542 |
0.000000 |
| 1836 | mutation | R.CSCPPA:AACHHVTGACR.C | G | A | 1137 | 6 | 1 | MEGF6 | O75095 | Alternative-splicing;-Calcium;-Complete-proteome;-Disulfide-bond;EGF-like-domain;-Glycoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 3413830-3413867;M1;3413868-3413887 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs4648506). | 3 | 27 | 1274 | Unknown | -2.51549908945 |
8216.75668722,5807.84483542 |
0.000000 |
| 1838 | mutation | R.LLQAQAA:GVDWR.E | S | A | 58 | 7 | 1 | NOL9 | Q5SY16 | Acetylation;-ATP-binding;-Complete-proteome;-Kinase;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding;-rRNA-processing;-Transferase. | Intracellular | Atlas | chr1 | 6614370-6614390;M1;6614391-6614412 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs6693391). | 21 | 64 | 1546 | Unknown | 1.80529730333 |
3768.73632795,5807.84483542 |
1.886595 |
| 1839 | mutation | R.SGETEDTFIT:DLVVGLCTGQ:IK.T | A | T | 382 | 10 | 1 | ENO1 | P06733 | 3D-structure;-Acetylation;-Alternative-initiation;-Cell-membrane;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-DNA-binding;Glycolysis;-Lyase;-Magnesium;-Membrane;-Metal-binding;-Nucleus;Phosphoprotein;-Plasminogen-activation;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 8922995-8923004;8923293-8923325;M1;8923326-8923356 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 3 | 1 | 250 | Unknown | 7.06750751864 |
506.395715522,5807.84483542 |
0.000000 |
| 1840 | mutation | A.GD:TDKVVIGMDVAASEFFR.S | Y | D | 236 | 2 | 1 | ENO1 | P06733 | 3D-structure;-Acetylation;-Alternative-initiation;-Cell-membrane;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-DNA-binding;Glycolysis;-Lyase;-Magnesium;-Membrane;-Metal-binding;-Nucleus;Phosphoprotein;-Plasminogen-activation;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 8925446-8925502;M1;8925503-8925509 | 1 | 4 | 4 | 1 | 0 | -1 | -1 | 230 | 150 | -80 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 249 | Unknown | 7.06750751864 |
506.395715522,5807.84483542 |
0.000000 |
| 1841 | mutation | K.DATD:VGDEGGFAPNILENKEG:LELLK.T | N | D | 206 | 4 | 1 | ENO1 | P06733 | 3D-structure;-Acetylation;-Alternative-initiation;-Cell-membrane;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-DNA-binding;Glycolysis;-Lyase;-Magnesium;-Membrane;-Metal-binding;-Nucleus;Phosphoprotein;-Plasminogen-activation;-Polymorphism;Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 8925521-8925541;8926337-8926388;M1;8926389-8926401 | 1 | 10 | 7 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 15 | 1 | 250 | Unknown | 7.06750751864 |
506.395715522,5807.84483542 |
0.000000 |
| 1842 | mutation | R.LFGSPLSDYYAYSPV:QER.D | R | Q | 453 | 16 | 1 | H6PD | O95479 | Carbohydrate-metabolism;-Complete-proteome;-Disease-mutation;Endoplasmic-reticulum;-Glucose-metabolism;-Glycoprotein;-Hydrolase;Multifunctional-enzyme;-NAD;-NADP;-Oxidoreductase;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Signal. | Intracellular | Atlas | chr1 | 9323860-9323909;M1;9323910-9323920 | 2 | 17 | 18 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(inCRD;lessthan50%ofactivity | 23 | 34 | 3664 | Unknown | 2.69713503093 |
2652.74372744,5807.84483542 |
0.000000 |
| 1842 | mutation | R.LFGSPLSDYYAYSPV:QER.D | R | Q | 464 | 16 | 1 | H6PD | R4GMU1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:R4GMU1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 9323860-9323909;M1;9323910-9323920 | 2 | 17 | 18 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 23 | 34 | 3664 | Unknown | 2.69713503093 |
2652.74372744,5807.84483542 |
0.000000 |
| 1843 | mutation | R.ES:LLVSAWSEELISK.L | P | L | 554 | 3 | 1 | H6PD | O95479 | Carbohydrate-metabolism;-Complete-proteome;-Disease-mutation;Endoplasmic-reticulum;-Glucose-metabolism;-Glycoprotein;-Hydrolase;Multifunctional-enzyme;-NAD;-NADP;-Oxidoreductase;-Polymorphism;Pyrrolidone-carboxylic-acid;-Reference-proteome;-Signal. | Intracellular | Atlas | chr1 | 9324202-9324212;M1;9324213-9324253 | 1 | 17 | 13 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs17368528). | 18 | 14 | 1301 | Unknown | 2.69713503093 |
2652.74372744,5807.84483542 |
0.000000 |
| 1843 | mutation | R.ES:LLVSAWSEELISK.L | P | L | 565 | 3 | 1 | H6PD | R4GMU1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:R4GMU1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 9324202-9324212;M1;9324213-9324253 | 1 | 17 | 13 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 18 | 14 | 1301 | Unknown | 2.69713503093 |
2652.74372744,5807.84483542 |
0.000000 |
| 1844 | mutation | K.WTAISALEYG:IPVTLI:GEAVFAR.C | V | I | 276 | 11 | 1 | PGD | P52209 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Gluconate-utilization;-NADP;-Oxidoreductase;-Pentose-shunt;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 10473256-10473289;M1;10473290-10473308;10477043-10477066 | 1 | 8 | 69 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 217 | Unknown | 5.00575960483 |
878.92154073,5807.84483542 |
0 |
| 1844 | mutation | K.WTAISALEYG:IPVTLI:GEAVFAR.C | V | I | 131 | 11 | 1 | PGD | K7ELN9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:K7ELN9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 10473256-10473289;M1;10473290-10473308;10477043-10477066 | 1 | 8 | 69 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 217 | Unknown | 5.00575960483 |
878.92154073,5807.84483542 |
0 |
| 1845 | mutation | R.ETSSDVV:LASHILTALR.E | A | V | 236 | 7 | 1 | DFFA | O00273 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr1 | 10523156-10523190;M1;10523191-10523213 | 2 | 1 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 147 | Unknown | 3.20709384218 |
2132.55350767,5807.84483542 |
0.000000 |
| 1846 | mutation | R.VEELPGDG:GVEFTHDESVK.K | S | G | 155 | 8 | 1 | FBXO2 | Q9UK22 | Complete-proteome;-Cytoplasm;-Endoplasmic-reticulum;-Lectin;-Membrane;Microsome;-Polymorphism;-Reference-proteome;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr1 | 11710021-11710059;M1;11710060-11710084 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 6 | 4 | 365 | Unknown | 2.09992198764 |
3134.94795913,5807.84483542 |
0.000000 |
| 1848 | mutation | R.TS:GELFAQAPVDQFP:STAVESVTDSSR.Y | G | S | 78 | 16 | 1 | NECAP2 | D6RAN6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:D6RAN6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 16770217-16770227;16774364-16774402;M1;16774403-16774441 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 1.91874100463 |
3512.91115069,5807.84483542 |
0.000000 |
| 1848 | mutation | R.TS:GELFAQAPVDQFP:STAVESVTDSSR.Y | G | S | 78 | 16 | 1 | NECAP2 | Q9NVZ3 | Alternative-splicing;-Cell-membrane;-Complete-proteome;Cytoplasmic-vesicle;-Endocytosis;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 16770217-16770227;16774364-16774402;M1;16774403-16774441 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 1.91874100463 |
3512.91115069,5807.84483542 |
0.000000 |
| 1848 | mutation | R.TS:GELFAQAPVDQFP:STAVESVTDSSR.Y | G | S | 78 | 16 | 1 | NECAP2 | F6SKB8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F6SKB8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 16770217-16770227;16774364-16774402;M1;16774403-16774441 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 250 | Unknown | 1.91874100463 |
3512.91115069,5807.84483542 |
0.000000 |
| 1849 | mutation | R.AQ:QEEAAAAHAQEVR.R | R | Q | 984 | 3 | 1 | CROCC | B1AKD8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1AKD8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 17281267-17281277;M1;17281278-17281318 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 2 | 12 | Unknown | -0.56905239272 |
6466.74349247,5807.84483542 |
0.000000 |
| 1849 | mutation | R.AQ:QEEAAAAHAQEVR.R | R | Q | 1124 | 3 | 1 | CROCC | Q5TZA2 | Alternative-splicing;-Cell-cycle;-Cilium-biogenesis/degradation;Coiled-coil;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 17281267-17281277;M1;17281278-17281318 | 1 | 0 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 2 | 12 | Unknown | -0.56905239272 |
6466.74349247,5807.84483542 |
0.000000 |
| 1850 | mutation | R.IAPWIMTPD:ILPPVSVFVCC:MK.D | N | D | 302 | 9 | 1 | PADI2 | Q9Y2J8 | 3D-structure;-Alternative-splicing;-Calcium;-Complete-proteome;Cytoplasm;-Hydrolase;-Reference-proteome. | Intracellular | Atlas | chr1 | 17410322-17410332;17411093-17411127;M1;17411128-17411155 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 8 | Unknown | 0.434695076881 |
5173.84649201,5807.84483542 |
1.000000 |
| 1851 | mutation | K.ETLQLI:DSTTSYGLTGAVFSQDK:DVVQEATK.V | V | I | 470 | 6 | 2 | ALDH4A1 | P30038 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Mitochondrion;-NAD;Oxidoreductase;-Phosphoprotein;-Polymorphism;-Proline-metabolism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr1 | 19201047-19201075;19201875-19201927;M1;19201928-19201946 | 2 | 4 | 16 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs2230709). | 21 | 15 | 1097 | Unknown | 2.84588278164 |
2504.68045846,5807.84483542 |
3.696159 |
| 1852 | mutation | R.VALEEL:ENKPR.K | M | L | 574 | 6 | 1 | UBR4 | X6R960 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:X6R960,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 19413240-19413260;M1;19413261-19413279 | 1 | 2 | 44 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | - | 106 | 65 | 12158 | Unknown | 1.67761726992 |
3970.14906363,5807.84483542 |
0.000000 |
| 1852 | mutation | R.VALEEL:ENKPR.K | M | L | 4867 | 6 | 1 | UBR4 | Q5T4S7 | Acetylation;-Alternative-splicing;-Calmodulin-binding;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Host-virus-interaction;-Ligase;-Membrane;-Metal-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transmembrane;Transmembrane-helix;-Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Membrane-Bound | Atlas | chr1 | 19413240-19413260;M1;19413261-19413279 | 1 | 2 | 44 | 1 | 0 | 0 | 0 | 185 | 170 | -15 | Hydrophobic;3.800000 | -1.800000 | M->L(indbSNP:rs12584). | 106 | 65 | 12158 | Targetable-Peptide | 1.67761726992 |
3970.14906363,5807.84483542 |
0.000000 |
| 1853 | mutation | R.LQCPQVDLFYLHT:PDHGTPVEETLHACQR.L | A | T | 142 | 13 | 1 | AKR7A2 | O43488 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Golgi-apparatus;-NADP;-Oxidoreductase;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 19634957-19635010;M1;19635011-19635050 | 2 | 4 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1043657). | 9 | 7 | 1746 | Unknown | 2.9900812145 |
2253.62830712,5807.84483542 |
0.000000 |
| 1853 | mutation | R.LQCPQVDLFYLHT:PDHGTPVEETLHACQR.L | A | T | 70 | 13 | 1 | AKR7A2 | H7C5H7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C5H7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 19634957-19635010;M1;19635011-19635050 | 2 | 4 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 7 | 1746 | Unknown | 2.9900812145 |
2253.62830712,5807.84483542 |
0.000000 |
| 1853 | mutation | R.LQCPQVDLFYLHT:PDHGTPVEETLHACQR.L | A | T | 132 | 13 | 1 | AKR7A2 | H3BLU7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H3BLU7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 19634957-19635010;M1;19635011-19635050 | 2 | 4 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 9 | 7 | 1746 | Unknown | 2.9900812145 |
2253.62830712,5807.84483542 |
0.000000 |
| 1854 | mutation | K.GN:VYIG:GAPDVATLTGGR.F | S | N | 4331 | 2 | 2 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22149940-22149981;22150108-22150119;M1;22150120-22150127 | 2 | 7 | 7 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs3736360). | 12 | 22 | 5002 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1855 | mutation | R.LENNMLMLPSVRPQDAGTYI:CTATNR.Q | V | I | 3640 | 20 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22159996-22160019;M1;22160020-22160080 | 1 | 2 | 4 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs17459097). | 9 | 3 | 574 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1856 | mutation | K.SIGASVEFHCAVPSDQ:GTQLR.W | R | Q | 3427 | 16 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22163350-22163369;M1;22163370-22163419 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 186 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1857 | mutation | R.SPLPWQHQ:LEGDTLIIPR.V | R | Q | 3257 | 8 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22165948-22165982;M1;22165983-22166008 | 1 | 2 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0 |
| 1858 | mutation | R.TYGLMDSHT:VLQ:ISSAK.P | A | T | 3168 | 9 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22166492-22166510;22167593-22167604;M1;22167605-22167632 | 1 | 3 | 12 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs2228349). | 21 | 10 | 1469 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1859 | mutation | R.M:QVVVLSA:SDASPPPVK.I | I | M | 2038 | 1 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22181226-22181258;22181340-22181359;M1;22181360-22181365 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 175 | 185 | 10 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 155 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1860 | mutation | K.AQIHGGILC:LPAVEPTDQAQYLCR.A | R | C | 1919 | 9 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22182064-22182114;M1;22182115-22182142 | 2 | 2 | 7 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs2229474). | 1 | 4 | 500 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1861 | mutation | L.V:ASISAVSLEVAQPGPSNRPR.A | A | V | 1503 | 1 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22191389-22191453;M1;22191454-22191458 | 3 | 5 | 40 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs897471). | 3 | 75 | 7576 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
2.182292 |
| 1862 | mutation | R.VPGGPYLGTCSGCS:CNGHASSCDPVYGH.C | N | S | 765 | 14 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22206602-22206648;M1;22206649-22206692 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs989994). | 6 | 84 | 7306 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
2.355190 |
| 1863 | mutation | R.GMLEPVQRPDVVLV:GAGYR.L | M | V | 638 | 14 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22207214-22207234;M1;22207235-22207277 | 2 | 5 | 379 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs1874792). | 87 | 66 | 5390 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
2.456334 |
| 1864 | mutation | R.VISSGSVASYI:TSPQGFQFR.- | V | I | 178 | 11 | 1 | HSPG2 | P98160 | 3D-structure;-Angiogenesis;-Basement-membrane;-Calcium;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-EGF-like-domain;-Extracellular-matrix;-Glycoprotein;Heparan-sulfate;-Immunoglobulin-domain;-Laminin-EGF-like-domain;Metal-binding;-Polymorphism;-Proteoglycan;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 22216486-22216515;M1;22216516-22216549 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 139 | Unknown | 3.36079633798 |
1968.24084129,5807.84483542 |
0.000000 |
| 1866 | mutation | R.AASYGLTPAT:SDCR.A | A | T | 935 | 10 | 1 | AHDC1 | Q5TGY3 | Acetylation;-Complete-proteome;-DNA-binding;-Mental-retardation;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 27875806-27875823;M1;27875824-27875854 | 2 | 5 | 12 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs4908364). | 30 | 67 | 11466 | Unknown | -1.39425962214 |
7294.83931332,5807.84483542 |
0.000000 |
| 1867 | mutation | R.WLDLTVV:EAK.G | K | E | 511 | 8 | 1 | THEMIS2 | Q5TEJ8 | Alternative-splicing;-Complete-proteome;-Immunity;Inflammatory-response;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr1 | 28209341-28209365;M1;28209366-28209377 | 1 | 10 | 25 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs3766400). | 60 | 74 | 7945 | Unknown | 1.49977660398 |
4049.24198096,5807.84483542 |
0.000000 |
| 1867 | mutation | R.WLDLTVV:EAK.G | K | E | 259 | 8 | 1 | THEMIS2 | H7C124 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C124,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 28209341-28209365;M1;28209366-28209377 | 1 | 10 | 25 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 60 | 74 | 7945 | Unknown | 1.49977660398 |
4049.24198096,5807.84483542 |
0.000000 |
| 1868 | mutation | K.IMPLEN:MNEFTTHILEVINAHMVLSK.A | D | N | 151 | 6 | 1 | RPA2 | P15927 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Direct-protein-sequencing;-DNA-damage;-DNA-recombination;-DNA-repair;DNA-replication;-DNA-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 28223524-28223589;M1;28223590-28223608 | 2 | 0 | 5 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 234 | Unknown | 2.76385421214 |
2455.28464402,5807.84483542 |
0 |
| 1868 | mutation | K.IMPLEN:MNEFTTHILEVINAHMVLSK.A | D | N | 155 | 6 | 1 | RPA2 | Q5TEJ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TEJ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 28223524-28223589;M1;28223590-28223608 | 2 | 0 | 5 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 234 | Unknown | 2.76385421214 |
2455.28464402,5807.84483542 |
0 |
| 1870 | mutation | R.ENTEFSE:MELQEWYK.G | L | M | 25 | 8 | 1 | HPCA | P84074 | Calcium;-Complete-proteome;-Disease-mutation;-Dystonia;-Lipoprotein;Metal-binding;-Myristate;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 33354547-33354571;M1;33354572-33354598 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 170 | 185 | 15 | Hydrophobic;1.900000 | -1.300000 | - | 26 | 1 | 2 | Unknown | -1.52198858355 |
7227.0,5807.84483542 |
0.000000 |
| 1871 | mutation | K.EKLDSVIEFN:IPDSLLIR.R | S | N | 129 | 10 | 1 | AK2 | P54819 | 3D-structure;-Acetylation;-Alternative-splicing;-ATP-binding;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Disulfide-bond;-Kinase;-Mitochondrion;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr1 | 33486978-33487006;M1;33487007-33487038 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 246 | Unknown | 5.9111941584 |
638.475912454,5807.84483542 |
0.000000 |
| 1871 | mutation | K.EKLDSVIEFN:IPDSLLIR.R | S | N | 87 | 10 | 1 | AK2 | F8VY04 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VY04,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 33486978-33487006;M1;33487007-33487038 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 246 | Unknown | 5.9111941584 |
638.475912454,5807.84483542 |
0.000000 |
| 1871 | mutation | K.EKLDSVIEFN:IPDSLLIR.R | S | N | 129 | 10 | 1 | AK2 | F8W1A4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|HAMAP-Rule:MF_03168};Proteomics-identification-{ECO:0000213|EPD:F8W1A4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 33486978-33487006;M1;33487007-33487038 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 246 | Unknown | 5.9111941584 |
638.475912454,5807.84483542 |
0.000000 |
| 1871 | mutation | K.EKLDSVIEFN:IPDSLLIR.R | S | N | 129 | 10 | 1 | AK2 | F8VZG5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8VZG5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 33486978-33487006;M1;33487007-33487038 | 1 | 2 | 5 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 246 | Unknown | 5.9111941584 |
638.475912454,5807.84483542 |
0.000000 |
| 1872 | mutation | R.VAASD:IVQMKDD:HDK.M | N | D | 24 | 5 | 1 | PSMB2 | P49721 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Host-virus-interaction;-Hydrolase;-Nucleus;Protease;-Proteasome;-Reference-proteome;-Threonine-protease. | Intracellular | Atlas | chr1 | 36102019-36102033;36106942-36106963;M1;36106964-36106979 | 1 | 0 | 1 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 4.5715235786 |
1082.10864767,5807.84483542 |
0.000000 |
| 1873 | mutation | K.DSRPSQAAGDNQGDE:VK.E | A | V | 201 | 16 | 1 | THRAP3 | Q9Y2W1 | Acetylation;-Activator;-ADP-ribosylation;-ATP-binding;Biological-rhythms;-Complete-proteome;-Direct-protein-sequencing;Isopeptide-bond;-Methylation;-mRNA-processing;-mRNA-splicing;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;-Receptor;Reference-proteome;-Transcription;-Transcription-regulation; | Intracellular | Atlas | chr1 | 36752383-36752432;M1;36752433-36752440 | 4 | 0 | 168 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs6425977). | 1 | 63 | 11270 | Unknown | 3.2264258249 |
2131.44942754,5807.84483542 |
0.000000 |
| 1874 | mutation | K.GSFSDTG:FGDGK.M | L | F | 383 | 8 | 1 | THRAP3 | Q9Y2W1 | Acetylation;-Activator;-ADP-ribosylation;-ATP-binding;Biological-rhythms;-Complete-proteome;-Direct-protein-sequencing;Isopeptide-bond;-Methylation;-mRNA-processing;-mRNA-splicing;Nucleotide-binding;-Nucleus;-Phosphoprotein;-Polymorphism;-Receptor;Reference-proteome;-Transcription;-Transcription-regulation; | Intracellular | Atlas | chr1 | 36754742-36754768;M1;36754769-36754784 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 170 | 210 | 40 | Hydrophobic;2.800000 | -2.500000 | - | 3 | 1 | 130 | Unknown | 3.2264258249 |
2131.44942754,5807.84483542 |
0.000000 |
| 1875 | mutation | K.IEYDDF:IECLLR.Q | V | I | 64 | 7 | 1 | NDUFS5 | O43920 | Complete-proteome;-Disulfide-bond;-Electron-transport;-Membrane;Mitochondrion;-Mitochondrion-inner-membrane;-Polymorphism;Reference-proteome;-Respiratory-chain;-Transport. | Intracellular | Atlas | chr1 | 39494564-39494585;M1;39494586-39494606 | 2 | 0 | 68 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 3.78907910774 |
1541.94329247,5807.84483542 |
0.000000 |
| 1876 | mutation | R.S:ALFAQINQGESITH:.A | S | A | 107 | 2 | 1 | CAP1 | Q5T0S3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T0S3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 40533340-40533346;M1;40533347-40533389;40535361-40535363 | 3 | 11 | 240 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 117 | 86 | 17513 | Unknown | 5.79236455375 |
661.079798019,5807.84483542 |
0.000000 |
| 1876 | mutation | R.S:ALFAQINQGESITH:.A | S | A | 256 | 2 | 1 | CAP1 | Q01518 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-membrane;-Complete-proteome;-Direct-protein-sequencing;Isopeptide-bond;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 40533340-40533346;M1;40533347-40533389;40535361-40535363 | 3 | 11 | 240 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs6665944). | 117 | 86 | 17513 | Unknown | 5.79236455375 |
661.079798019,5807.84483542 |
0.000000 |
| 1877 | mutation | P.SPPMT:NLISVGGQHQG:VFGLPR.C | I | T | 59 | 5 | 1 | PPT1 | E9PIA8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PIA8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 40555161-40555184;40557000-40557032;M1;40557033-40557049 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 7 | 1511 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0.000000 |
| 1877 | mutation | P.SPPMT:NLISVGGQHQG:VFGLPR.C | I | T | 29 | 5 | 1 | PPT1 | Q5T0S4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T0S4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 40555161-40555184;40557000-40557032;M1;40557033-40557049 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 7 | 1511 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0.000000 |
| 1877 | mutation | P.SPPMT:NLISVGGQHQG:VFGLPR.C | I | T | 134 | 5 | 1 | PPT1 | P50897 | 3D-structure;-Alternative-splicing;-Complete-proteome;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Hydrolase;-Lysosome;Neurodegeneration;-Neuronal-ceroid-lipofuscinosis;-Polymorphism;Reference-proteome;-Sensory-transduction;-Signal;-Vision. | Intracellular | Atlas | chr1 | 40555161-40555184;40557000-40557032;M1;40557033-40557049 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs1800205). | 3 | 7 | 1511 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0.000000 |
| 1877 | mutation | P.SPPMT:NLISVGGQHQG:VFGLPR.C | I | T | 163 | 5 | 1 | PPT1 | E9PMG2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PMG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 40555161-40555184;40557000-40557032;M1;40557033-40557049 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 7 | 1511 | Unknown | 3.88225232413 |
1457.69900862,5807.84483542 |
0.000000 |
| 1879 | mutation | K.ATAI:MPDGQFK.D | V | I | 20 | 4 | 1 | PRDX1 | Q06830 | 3D-structure;-Acetylation;-Antioxidant;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disulfide-bond;-Isopeptide-bond;Oxidoreductase;-Peroxidase;-Phosphoprotein;-Polymorphism;Redox-active-center;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 45984631-45984657;M1;45984658-45984670 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 6.87179263096 |
530.965944108,5807.84483542 |
0 |
| 1879 | mutation | K.ATAI:MPDGQFK.D | V | I | 20 | 4 | 1 | PRDX1 | A0A0A0MSI0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MSI0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 45984631-45984657;M1;45984658-45984670 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 6.87179263096 |
530.965944108,5807.84483542 |
0 |
| 1880 | mutation | R.HIDCAAIYG:SEPEIGEALK.E | N | S | 52 | 10 | 1 | AKR1A1 | P14550 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-NADP;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 46032279-46032310;M1;46032311-46032342 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(reducedactivitytowards | 18 | 5 | 1214 | Unknown | 5.2276426685 |
814.86781877,5807.84483542 |
0.000000 |
| 1880 | mutation | R.HIDCAAIYG:SEPEIGEALK.E | N | S | 52 | 10 | 1 | AKR1A1 | V9GYP9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:V9GYP9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46032279-46032310;M1;46032311-46032342 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 5 | 1214 | Unknown | 5.2276426685 |
814.86781877,5807.84483542 |
0.000000 |
| 1880 | mutation | R.HIDCAAIYG:SEPEIGEALK.E | N | S | 52 | 10 | 1 | AKR1A1 | Q5T621 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T621,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46032279-46032310;M1;46032311-46032342 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 5 | 1214 | Unknown | 5.2276426685 |
814.86781877,5807.84483542 |
0.000000 |
| 1880 | mutation | R.HIDCAAIYG:SEPEIGEALK.E | N | S | 52 | 10 | 1 | AKR1A1 | V9GYG2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:V9GYG2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 46032279-46032310;M1;46032311-46032342 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 18 | 5 | 1214 | Unknown | 5.2276426685 |
814.86781877,5807.84483542 |
0.000000 |
| 1881 | mutation | K.NHFLV:VGVPASPYS:VK.K | M | V | 623 | 5 | 1 | POMGNT1 | Q8WZA1 | Alternative-splicing;-Complete-proteome;Congenital-muscular-dystrophy;-Disease-mutation;-Dystroglycanopathy;Glycosyltransferase;-Golgi-apparatus;-Isopeptide-bond;Limb-girdle-muscular-dystrophy;-Lissencephaly;-Manganese;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome;Retinitis-pigmentosa;-Signal-anchor;-Transferase;-Transmembrane;Transmembrane-helix;-Ubl-conjugation. | Membrane-Bound | Atlas | chr1 | 46655019-46655029;46655129-46655157;M1;46655158-46655173 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs6659553). | 6 | 86 | 19333 | Lumenal | -0.98052733796 |
6791.65461174,5807.84483542 |
0.000000 |
| 1882 | mutation | G.SGRPEGGADG:SGVGAEAELQANPFYDR.Y | S | G | 15 | 10 | 2 | ATPAF1 | H0YDD6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YDD6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 47133754-47133810;M1;47133811-47133841 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 6 | 83 | 12520 | Unknown | 2.35329575551 |
3004.65033785,5807.84483542 |
1.000000 |
| 1882 | mutation | G.SGRPEGGADG:SGVGAEAELQANPFYDR.Y | S | G | 85 | 10 | 2 | ATPAF1 | A8MRA7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A8MRA7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 47133754-47133810;M1;47133811-47133841 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 6 | 83 | 12520 | Unknown | 2.35329575551 |
3004.65033785,5807.84483542 |
1.000000 |
| 1882 | mutation | G.SGRPEGGADG:SGVGAEAELQANPFYDR.Y | S | G | 62 | 10 | 2 | ATPAF1 | Q5TC12 | Alternative-splicing;-Complete-proteome;-Mitochondrion;-Polymorphism;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr1 | 47133754-47133810;M1;47133811-47133841 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | S->G(indbSNP:rs11211337). | 6 | 83 | 12520 | Unknown | 2.35329575551 |
3004.65033785,5807.84483542 |
1.000000 |
| 1882 | mutation | G.SGRPEGGADG:SGVGAEAELQANPFYDR.Y | S | G | 85 | 10 | 2 | ATPAF1 | I3L448 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I3L448,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 47133754-47133810;M1;47133811-47133841 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 6 | 83 | 12520 | Unknown | 2.35329575551 |
3004.65033785,5807.84483542 |
1.000000 |
| 1883 | mutation | K.AELTSQEL:QISTYEEELAK.A | S | L | 438 | 8 | 1 | EPS15 | P42566 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Cell-membrane;-Chromosomal-rearrangement;-Coated-pit;Complete-proteome;-Cytoplasm;-Endocytosis;-Endosome;-Membrane;Metal-binding;-Phosphoprotein;-Polymorphism;-Protein-transport;Proto-oncogene;-Reference-proteome;-Repeat;-SH3-binding;-Transport; | Intracellular | Atlas | chr1 | 51873929-51873966;M1;51873967-51873992 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 6 | 5 | 274 | Unknown | 2.46772221312 |
2946.01455025,5807.84483542 |
0.000000 |
| 1884 | mutation | K.DGSTA:IHFEHSWGDGVAVLR.F | V | I | 368 | 6 | 1 | CPT2 | P23786 | Acetylation;-Acyltransferase;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Fatty-acid-metabolism;Lipid-metabolism;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Polymorphism;-Reference-proteome;Transferase;-Transit-peptide;-Transport. | Intracellular | Atlas | chr1 | 53676429-53676447;M1;53676448-53676495 | 2 | 0 | 28 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(commonpolymorphismassociated | 1 | 51 | 5898 | Unknown | 3.80975327375 |
1601.77507323,5807.84483542 |
2.077240 |
| 1885 | mutation | K.ALED:VFDALEGK.S | M | V | 647 | 5 | 1 | CPT2 | P23786 | Acetylation;-Acyltransferase;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Fatty-acid-metabolism;Lipid-metabolism;-Membrane;-Mitochondrion;Mitochondrion-inner-membrane;-Polymorphism;-Reference-proteome;Transferase;-Transit-peptide;-Transport. | Intracellular | Atlas | chr1 | 53679213-53679228;M1;53679229-53679255 | 2 | 0 | 97 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(commonpolymorphism;confirmedat | 1 | 25 | 2352 | Unknown | 3.80975327375 |
1601.77507323,5807.84483542 |
1.550978 |
| 1886 | mutation | F.QLNTTDLD:SNEGVK.N | C | S | 151 | 9 | 1 | MRPL37 | H0Y4J2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4J2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 54681891-54681919;M1;54681920-54681939 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 135 | 115 | -20 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 79 | 19228 | Unknown | 2.11377581141 |
3306.55504686,5807.84483542 |
0.000000 |
| 1886 | mutation | F.QLNTTDLD:SNEGVK.N | C | S | 366 | 9 | 1 | MRPL37 | Q9BZE1 | 3D-structure;-Complete-proteome;-Mitochondrion;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein; | Intracellular | Atlas | chr1 | 54681891-54681919;M1;54681920-54681939 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 135 | 115 | -20 | -0.800000 | Hydrophilic;0.300000 | C->S(indbSNP:rs13571). | 3 | 79 | 19228 | Unknown | 2.11377581141 |
3306.55504686,5807.84483542 |
0.000000 |
| 1886 | mutation | F.QLNTTDLD:SNEGVK.N | C | S | 235 | 9 | 1 | MRPL37 | A6NHR2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6NHR2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 54681891-54681919;M1;54681920-54681939 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 135 | 115 | -20 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 79 | 19228 | Unknown | 2.11377581141 |
3306.55504686,5807.84483542 |
0.000000 |
| 1886 | mutation | F.QLNTTDLD:SNEGVK.N | C | S | 366 | 9 | 1 | MRPL37 | S4R369 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:S4R369,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 54681891-54681919;M1;54681920-54681939 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 135 | 115 | -20 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 79 | 19228 | Unknown | 2.11377581141 |
3306.55504686,5807.84483542 |
0.000000 |
| 1887 | mutation | Y.SLVCDAYCSLFS:K.L | N | S | 235 | 12 | 1 | PARS2 | Q7L3T8 | Aminoacyl-tRNA-synthetase;-ATP-binding;-Complete-proteome;-Ligase;Mitochondrion;-Nucleotide-binding;-Polymorphism;-Protein-biosynthesis;Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr1 | 55224123-55224130;M1;55224131-55224168 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs2270004). | 9 | 26 | 1535 | Unknown | 1.94586830512 |
3520.50708095,5807.84483542 |
2.790244 |
| 1888 | mutation | K.EVEDCVTNRPCR:.S | G | R | 55 | 12 | 1 | C8B | F5GY80 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00497469};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5GY80};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 57422478-57422483;M1;57422484-57422520 | 1 | 0 | 31 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 70 | 3 | 5 | Unknown | 2.7664303892 |
2509.22238006,5807.84483542 |
0.000000 |
| 1888 | mutation | K.EVEDCVTNRPCR:.S | G | R | 65 | 12 | 1 | C8B | F5H7G1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00497469};Proteomics-identification-{ECO:0000213|PeptideAtlas:F5H7G1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 57422478-57422483;M1;57422484-57422520 | 1 | 0 | 31 | 1 | 0 | 1 | 1 | 75 | 225 | 150 | -4.500000 | Hydrophilic;3.000000 | - | 70 | 3 | 5 | Unknown | 2.7664303892 |
2509.22238006,5807.84483542 |
0.000000 |
| 1889 | mutation | K.AAGE:VDIGDAAYYFER.D | D | E | 216 | 4 | 1 | TACSTD2 | P09758 | 3D-structure;-Amyloid;-Amyloidosis;-Complete-proteome;Corneal-dystrophy;-Disulfide-bond;-Glycoprotein;-Membrane;Polymorphism;-Reference-proteome;-Sensory-transduction;-Signal;Transmembrane;-Transmembrane-helix;-Tumor-antigen;-Vision. | Membrane-Bound | Atlas | chr1 | 59042141-59042180;M1;59042181-59042195 | 2 | 0 | 17 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | D->E(indbSNP:rs14008). | 1 | 12 | 2884 | Targetable | 3.74620908297 |
1640.29477348,5807.84483542 |
0.000000 |
| 1890 | mutation | K.IT:SNQNQDTQEK.K | G | S | 1178 | 3 | 1 | INADL | Q8NI35 | 3D-structure;-Alternative-splicing;-Cell-junction;-Cell-membrane;Complete-proteome;-Cytoplasm;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Tight-junction. | Intracellular | Atlas | chr1 | 62380288-62380297;M1;62380298-62380330 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs1056513). | 6 | 70 | 5627 | Unknown | -1.09129914373 |
6934.62640561,5807.84483542 |
2.060851 |
| 1890 | mutation | K.IT:SNQNQDTQEK.K | G | S | 24 | 3 | 1 | INADL | A0A0U1RQW4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQW4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 62380288-62380297;M1;62380298-62380330 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 70 | 5627 | Unknown | -1.09129914373 |
6934.62640561,5807.84483542 |
2.060851 |
| 1891 | mutation | R.M:HIGDELLE:INNQILYGR.S | R | H | 66 | 2 | 1 | INADL | A0A0U1RQT2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RQT2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 62456006-62456013;M1;62456014-62456036;62483527-62483557 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 41 | 2084 | Unknown | -1.09129914373 |
6934.62640561,5807.84483542 |
0.000000 |
| 1891 | mutation | R.M:HIGDELLE:INNQILYGR.S | R | H | 1282 | 2 | 1 | INADL | Q8NI35 | 3D-structure;-Alternative-splicing;-Cell-junction;-Cell-membrane;Complete-proteome;-Cytoplasm;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Tight-junction. | Intracellular | Atlas | chr1 | 62456006-62456013;M1;62456014-62456036;62483527-62483557 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs1134767). | 1 | 41 | 2084 | Unknown | -1.09129914373 |
6934.62640561,5807.84483542 |
0.000000 |
| 1891 | mutation | R.M:HIGDELLE:INNQILYGR.S | R | H | 66 | 2 | 1 | INADL | B4DE90 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B4DE90,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 62456006-62456013;M1;62456014-62456036;62483527-62483557 | 1 | 0 | 1 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | - | 1 | 41 | 2084 | Unknown | -1.09129914373 |
6934.62640561,5807.84483542 |
0.000000 |
| 1892 | mutation | R.LV:VGQNGILSTPAVSCIIR.K | I | V | 88 | 3 | 1 | PGM1 | P36871 | 3D-structure;-Acetylation;-Alternative-splicing;Carbohydrate-metabolism;-Complete-proteome;Congenital-disorder-of-glycosylation;-Cytoplasm;-Disease-mutation;Glucose-metabolism;-Glycogen-storage-disease;-Isomerase;-Magnesium;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 64095101-64095110;M1;64095111-64095164 | 1 | 2 | 14 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs855314). | 1 | 18 | 3666 | Unknown | 4.67751313424 |
1018.25784574,5807.84483542 |
2.533538 |
| 1893 | mutation | K.I:CIDAMHG:VVGPYVK.K | R | C | 221 | 2 | 1 | PGM1 | P36871 | 3D-structure;-Acetylation;-Alternative-splicing;Carbohydrate-metabolism;-Complete-proteome;Congenital-disorder-of-glycosylation;-Cytoplasm;-Disease-mutation;Glucose-metabolism;-Glycogen-storage-disease;-Isomerase;-Magnesium;Metal-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 64097425-64097431;M1;64097432-64097453;64100499-64100522 | 1 | 1 | 33 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(inallelePGM1*2+,allele | 1 | 38 | 4518 | Unknown | 4.67751313424 |
1018.25784574,5807.84483542 |
0.000000 |
| 1894 | mutation | K.V:LGTAGTEEGQK.I | I | V | 176 | 1 | 1 | CRYZ | A6NP24 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6NP24,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 75175847-75175885;M1;75175886-75175889 | 2 | 0 | 94 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 16 | 1839 | Unknown | 4.55064629304 |
1103.47726927,5807.84483542 |
1.000000 |
| 1894 | mutation | K.V:LGTAGTEEGQK.I | I | V | 176 | 1 | 1 | CRYZ | Q08257 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-NADP;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr1 | 75175847-75175885;M1;75175886-75175889 | 2 | 0 | 94 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs3819946). | 1 | 16 | 1839 | Unknown | 4.55064629304 |
1103.47726927,5807.84483542 |
1.000000 |
| 1894 | mutation | K.V:LGTAGTEEGQK.I | I | V | 176 | 1 | 1 | CRYZ | C9JH92 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JH92,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 75175847-75175885;M1;75175886-75175889 | 2 | 0 | 94 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 16 | 1839 | Unknown | 4.55064629304 |
1103.47726927,5807.84483542 |
1.000000 |
| 1895 | mutation | R.CSG:LLQVIFSPLEEEVK.A | A | G | 409 | 3 | 1 | GBP1 | P32455 | 3D-structure;-Antiviral-defense;-Cell-membrane;-Complete-proteome;Cytoplasm;-Golgi-apparatus;-GTP-binding;-Hydrolase;-Immunity;Lipoprotein;-Membrane;-Methylation;-Nucleotide-binding;-Polymorphism;Prenylation;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr1 | 89521794-89521840;M1;89521841-89521851 | 2 | 0 | 50 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | A->G(indbSNP:rs1048443). | 1 | 31 | 5570 | Unknown | 4.09242722861 |
1344.80535739,5807.84483542 |
1.643401 |
| 1896 | mutation | K.VQLPTETLQD:LLDLHR.D | E | D | 352 | 10 | 1 | GBP1 | P32455 | 3D-structure;-Antiviral-defense;-Cell-membrane;-Complete-proteome;Cytoplasm;-Golgi-apparatus;-GTP-binding;-Hydrolase;-Immunity;Lipoprotein;-Membrane;-Methylation;-Nucleotide-binding;-Polymorphism;Prenylation;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr1 | 89522614-89522635;M1;89522636-89522668 | 1 | 4 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 1 | 244 | Unknown | 4.09242722861 |
1344.80535739,5807.84483542 |
0.000000 |
| 1897 | mutation | K.VQLPTES:LQELLDLHRDSER.E | T | S | 349 | 7 | 1 | GBP1 | P32455 | 3D-structure;-Antiviral-defense;-Cell-membrane;-Complete-proteome;Cytoplasm;-Golgi-apparatus;-GTP-binding;-Hydrolase;-Immunity;Lipoprotein;-Membrane;-Methylation;-Nucleotide-binding;-Polymorphism;Prenylation;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr1 | 89522602-89522645;M1;89522646-89522668 | 2 | 4 | 62 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs1048425). | 1 | 63 | 10543 | Unknown | 4.09242722861 |
1344.80535739,5807.84483542 |
3.399880 |
| 1898 | mutation | K.GV:WMWCVPHPK.K | I | V | 78 | 2 | 1 | GBP1 | P32455 | 3D-structure;-Antiviral-defense;-Cell-membrane;-Complete-proteome;Cytoplasm;-Golgi-apparatus;-GTP-binding;-Hydrolase;-Immunity;Lipoprotein;-Membrane;-Methylation;-Nucleotide-binding;-Polymorphism;Prenylation;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr1 | 89525933-89525965;M1;89525966-89525972 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1048401). | 1 | 1 | 245 | Unknown | 4.09242722861 |
1344.80535739,5807.84483542 |
2.807355 |
| 1899 | mutation | K.TLSGGIA:VNGPR:.L | P | A | 285 | 7 | 1 | GBP2 | P32456 | Complete-proteome;-Cytoplasm;-Golgi-apparatus;-GTP-binding;-Hydrolase;Lipoprotein;-Membrane;-Methylation;-Nucleotide-binding;-Polymorphism;Prenylation;-Reference-proteome. | Intracellular | Atlas | chr1 | 89579974-89579979;89582674-89582689;M1;89582690-89582711 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | P->A(indbSNP:rs1803632). | 17 | 72 | 9124 | Unknown | 3.20688802606 |
2078.28831993,5807.84483542 |
2.649866 |
| 1900 | mutation | R.TLHAAVPTPG:YPESESIMMAPV:CLVENQEEQLTVNSK.A | I | V | 26 | 22 | 1 | GBP4 | Q96PP9 | Coiled-coil;-Complete-proteome;-Cytoplasm;-Golgi-apparatus;GTP-binding;-Hydrolase;-Membrane;-Nucleotide-binding;-Nucleus;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 89662901-89662951;M1;89662952-89662987;89664477-89664508 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 2 | 41 | Unknown | 1.60267359038 |
3983.27792608,5807.84483542 |
0.000000 |
| 1901 | mutation | R.A:SDYYSQQMAQR.V | A | S | 331 | 2 | 1 | GBP6 | Q6ZN66 | Alternative-splicing;-Complete-proteome;-GTP-binding;Nucleotide-binding;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr1 | 89847365-89847371;M1;89847372-89847407 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | A->S(indbSNP:rs4658359). | 1 | 21 | 41 | Unknown | -1.42679750031 |
7360.40400436,5807.84483542 |
0.000000 |
| 1902 | mutation | K.FV:NPFGLASATPATSTSMIR.R | I | V | 543 | 2 | 1 | DPYD | Q12882 | 4Fe-4S;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-Disease-mutation;-FAD;Flavoprotein;-FMN;-Iron;-Iron-sulfur;-Metal-binding;-NADP;Nucleotide-binding;-Oxidoreductase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 97981335-97981394;M1;97981395-97981401 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(inalleleDPYD*5; | 1 | 13 | 334 | Unknown | 1.60720126382 |
3895.659342,5807.84483542 |
2.403677 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | E9PS21 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PS21,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 62 | 3474 | Unknown | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | E9PLY8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PLY8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 62 | 3474 | Unknown | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | E9PLQ2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PLQ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 62 | 3474 | Unknown | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | E9PMS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PMS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 62 | 3474 | Unknown | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | E9PB18 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PB18,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 62 | 3474 | Targetable-Peptide | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1907 | mutation | R.VAVPHTPGLCTSLPDP:VK.G | I | V | 86 | 17 | 1 | KIAA1324 | Q6UXG2 | Alternative-splicing;-Autophagy;-Cell-membrane;-Complete-proteome;Disulfide-bond;-Endosome;-Glycoprotein;-Golgi-apparatus;-Lysosome;Membrane;-Polymorphism;-Reference-proteome;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr1 | 109704566-109704617;M1;109704618-109704626 | 2 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs678238). | 1 | 62 | 3474 | Targetable | -0.675911275389 |
6225.21548596,5807.84483542 |
0.000000 |
| 1908 | mutation | K.KLDLEAWFPGS:EAFR.E | G | E | 387 | 12 | 1 | SARS | P49591 | 3D-structure;-Acetylation;-Aminoacyl-tRNA-synthetase;-ATP-binding;Complete-proteome;-Cytoplasm;-Ligase;-Nucleotide-binding;Phosphoprotein;-Protein-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr1 | 109779035-109779072;M1;109779073-109779086 | 1 | 6 | 5 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 3 | 750 | Unknown | 4.0092464129 |
1458.86739607,5807.84483542 |
0.000000 |
| 1908 | mutation | K.KLDLEAWFPGS:EAFR.E | G | E | 387 | 12 | 1 | SARS | Q5T5C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T5C7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 109779035-109779072;M1;109779073-109779086 | 1 | 6 | 5 | 1 | 0 | -1 | -1 | 75 | 190 | 115 | -3.500000 | Hydrophilic;3.000000 | - | 9 | 3 | 750 | Unknown | 4.0092464129 |
1458.86739607,5807.84483542 |
0.000000 |
| 1909 | mutation | R.KPQ:NSECDATAK.N | E | Q | 444 | 3 | 1 | SORT1 | Q99523 | 3D-structure;-Alternative-splicing;-Cell-membrane;Cleavage-on-pair-of-basic-residues;-Complete-proteome;Developmental-protein;-Differentiation;-Direct-protein-sequencing;Disulfide-bond;-Endocytosis;-Endoplasmic-reticulum;-Endosome;Glycoprotein;-Golgi-apparatus;-Lysosome;-Membrane;-Nucleus;Osteogenesis;-Phosphoprotein;-Polymorphism;-Receptor;Reference-proteome;-Repeat;-Signal;-Transmembrane;Transmembrane-helix;-Transport. | Membrane-Bound | Atlas | chr1 | 109878870-109878902;M1;109878903-109878912 | 1 | 0 | 1 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 4 | 931 | Targetable | 1.13731234398 |
4524.59410967,5807.84483542 |
0.000000 |
| 1910 | mutation | R.IS:HSNYIPTQQDVLR.T | Q | H | 164 | 3 | 1 | GNAI3 | P08754 | 3D-structure;-ADP-ribosylation;-Cell-cycle;-Cell-division;Cell-membrane;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Disease-mutation;-GTP-binding;-Lipoprotein;-Magnesium;-Membrane;Metal-binding;-Myristate;-Nucleotide-binding;-Palmitate;Reference-proteome;-Transducer. | Intracellular | Atlas | chr1 | 110125077-110125088;M1;110125089-110125128 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 3 | 1 | 250 | Unknown | 3.65592787649 |
1699.30766231,5807.84483542 |
0.000000 |
| 1911 | mutation | R.KH:SL:CGETEEEK.I | N | S | 85 | 3 | 1 | GSTM5 | P46439 | Complete-proteome;-Cytoplasm;-Polymorphism;-Reference-proteome; | Intracellular | Atlas | chr1 | 110256171-110256181;M1;110256182-110256187;110256282-110256308 | 2 | 0 | 3 | 2 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 32 | Unknown | 3.5006946609 |
1787.59429404,5807.84483542 |
0.000000 |
| 1911 | mutation | R.KH:SL:CGETEEEK.I | N | S | 44 | 3 | 1 | GSTM5 | Q5T8Q9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:Q5T8Q9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 110256171-110256181;M1;110256182-110256187;110256282-110256308 | 2 | 0 | 3 | 2 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 32 | Unknown | 3.5006946609 |
1787.59429404,5807.84483542 |
0.000000 |
| 1911 | mutation | R.KH:SL:CGETEEEK.I | N | S | 85 | 3 | 1 | GSTM5 | Q5T8R1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:Q5T8R1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 110256171-110256181;M1;110256182-110256187;110256282-110256308 | 2 | 0 | 3 | 2 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 32 | Unknown | 3.5006946609 |
1787.59429404,5807.84483542 |
0.000000 |
| 1912 | mutation | K.LTSDPP:DIPVVCLESDNG:NIMIQK.H | T | P | 142 | 6 | 1 | LAMTOR5 | A0A0C4DGV4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0C4DGV4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 110944183-110944205;110946540-110946577;M1;110946578-110946596 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 15 | 1 | 249 | Unknown | 3.14118810673 |
2131.90723939,5807.84483542 |
0.000000 |
| 1912 | mutation | K.LTSDPP:DIPVVCLESDNG:NIMIQK.H | T | P | 59 | 6 | 1 | LAMTOR5 | E9PLX3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PLX3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 110944183-110944205;110946540-110946577;M1;110946578-110946596 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 15 | 1 | 249 | Unknown | 3.14118810673 |
2131.90723939,5807.84483542 |
0.000000 |
| 1912 | mutation | K.LTSDPP:DIPVVCLESDNG:NIMIQK.H | T | P | 48 | 6 | 1 | LAMTOR5 | R4GMU8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:R4GMU8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 110944183-110944205;110946540-110946577;M1;110946578-110946596 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 15 | 1 | 249 | Unknown | 3.14118810673 |
2131.90723939,5807.84483542 |
0.000000 |
| 1912 | mutation | K.LTSDPP:DIPVVCLESDNG:NIMIQK.H | T | P | 60 | 6 | 1 | LAMTOR5 | O43504 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Lysosome;-Reference-proteome. | Intracellular | Atlas | chr1 | 110944183-110944205;110946540-110946577;M1;110946578-110946596 | 1 | 1 | 5 | 1 | 0 | 0 | 0 | 140 | 145 | 5 | -1.600000 | 0.000000 | - | 15 | 1 | 249 | Unknown | 3.14118810673 |
2131.90723939,5807.84483542 |
0.000000 |
| 1913 | mutation | K.HFCPD:VPIILVGNKK.D | N | D | 109 | 5 | 1 | RHOC | Q5JR08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JR08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245232-113245267;M1;113245268-113245283 | 2 | 4 | 5 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0.000000 |
| 1913 | mutation | K.HFCPD:VPIILVGNKK.D | N | D | 109 | 5 | 1 | RHOC | E9PQH6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQH6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245232-113245267;M1;113245268-113245283 | 2 | 4 | 5 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0.000000 |
| 1913 | mutation | K.HFCPD:VPIILVGNKK.D | N | D | 109 | 5 | 1 | RHOC | Q5JR05 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245232-113245267;M1;113245268-113245283 | 2 | 4 | 5 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0.000000 |
| 1913 | mutation | K.HFCPD:VPIILVGNKK.D | N | D | 109 | 5 | 1 | RHOC | Q5JR07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:Q5JR07};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 113245232-113245267;M1;113245268-113245283 | 2 | 4 | 5 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0.000000 |
| 1913 | mutation | K.HFCPD:VPIILVGNKK.D | N | D | 109 | 5 | 1 | RHOC | P08134 | 3D-structure;-ADP-ribosylation;-Cell-membrane;-Complete-proteome;Glycoprotein;-GTP-binding;-Lipoprotein;-Membrane;-Methylation;Nucleotide-binding;-Polymorphism;-Prenylation;-Reference-proteome. | Intracellular | Atlas | chr1 | 113245232-113245267;M1;113245268-113245283 | 2 | 4 | 5 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.37384760017 |
749.825113153,5807.84483542 |
0.000000 |
| 1915 | mutation | K.T:EPADMNESCK.Q | I | T | 840 | 1 | 1 | TRIM33 | Q9UPN9 | 3D-structure;-Acetylation;-Alternative-splicing;-Bromodomain;Chromosomal-rearrangement;-Coiled-coil;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Ligase;-Metal-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation;Ubl-conjugation-pathway;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr1 | 114948246-114948280;M1;114948281-114948285 | 2 | 0 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs6537825). | 1 | 66 | 4162 | Unknown | 0.893735753749 |
4917.34841836,5807.84483542 |
2.559856 |
| 1915 | mutation | K.T:EPADMNESCK.Q | I | T | 840 | 1 | 1 | TRIM33 | E7EN20 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EN20,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 114948246-114948280;M1;114948281-114948285 | 2 | 0 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 1 | 66 | 4162 | Unknown | 0.893735753749 |
4917.34841836,5807.84483542 |
2.559856 |
| 1915 | mutation | K.T:EPADMNESCK.Q | I | T | 601 | 1 | 1 | TRIM33 | H0Y612 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y612,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 114948246-114948280;M1;114948281-114948285 | 2 | 0 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 1 | 66 | 4162 | Unknown | 0.893735753749 |
4917.34841836,5807.84483542 |
2.559856 |
| 1916 | mutation | K.DNFGFIETAD:HDK.E | N | D | 537 | 10 | 1 | CSDE1 | O75534 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Isopeptide-bond;-Phosphoprotein;-Reference-proteome;Repeat;-RNA-binding;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 115268848-115268862;M1;115268863-115268893 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 3 | 750 | Unknown | 3.22823179612 |
2134.43021983,5807.84483542 |
0.000000 |
| 1916 | mutation | K.DNFGFIETAD:HDK.E | N | D | 407 | 10 | 1 | CSDE1 | E9PLT0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PLT0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 115268848-115268862;M1;115268863-115268893 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 6 | 3 | 750 | Unknown | 3.22823179612 |
2134.43021983,5807.84483542 |
0.000000 |
| 1917 | mutation | K.VPGFADDPTELAC:QVVDTK.S | R | Q | 430 | 14 | 1 | PTGFRN | Q9P2B2 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Endoplasmic-reticulum;-Glycoprotein;-Golgi-apparatus;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr1 | 117503896-117503939;M1;117503940-117503959 | 2 | 0 | 4 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 7 | 283 | Targetable | 1.82280365797 |
3711.9557156,5807.84483542 |
6.228819 |
| 1918 | mutation | H.TGSGILSMV:NAGPNTNGSQFFICTAK.T | A | V | 101 | 9 | 1 | PPIAL4G | P0DN37 | Complete-proteome;-Cytoplasm;-Isomerase;-Reference-proteome;-Rotamase. | Intracellular | Atlas | chr1 | 143767491-143767546;M1;143767547-143767575 | 1 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 12 | Unknown | - |
- |
0.000000 |
| 1919 | mutation | A.AVLEC:LTAEILELAGNAAR.D | Y | C | 58 | 5 | 2 | HIST2H2AB | Q8IUE6 | Acetylation;-Chromosome;-Citrullination;-Complete-proteome;DNA-binding;-Isopeptide-bond;-Methylation;-Nucleosome-core;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 149859247-149859293;M1;149859294-149859310 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 230 | 135 | -95 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 1 | Unknown | - |
- |
0.000000 |
| 1920 | mutation | K.QPC:IPPPQLQQQQVK.Q | T | I | 11 | 4 | 1 | SPRR1B | P22528 | Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;Keratinization;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 153004839-153004852;M1;153004853-153004890 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | T->I(indbSNP:rs3795382). | 1 | 16 | 388 | Unknown | 2.30194489684 |
2285.5762121,5807.84483542 |
0.000000 |
| 1921 | mutation | K.ID:KPSLLTMMK.E | E | D | 28 | 2 | 1 | S100A7 | P31151 | 3D-structure;-Acetylation;-Calcium;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disulfide-bond;-Metal-binding;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Zinc. | Intracellular | Atlas | chr1 | 153431375-153431405;M1;153431406-153431414 | 1 | 0 | 1 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | E->D(indbSNP:rs3014837). | 1 | 47 | 2314 | Unknown | 1.8860935697 |
2732.93789774,5807.84483542 |
0.000000 |
| 1922 | mutation | R.NTNSVPETAPAAIPETR:.R | K | R | 379 | 17 | 1 | ADAR | H0YCK3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YCK3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 154573962-154573966;M1;154573967-154574019 | 2 | 0 | 98 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 60 | 12806 | Unknown | 3.57211919712 |
1811.55716252,5807.84483542 |
0.000000 |
| 1922 | mutation | R.NTNSVPETAPAAIPETR:.R | K | R | 384 | 17 | 1 | ADAR | P55265 | 3D-structure;-Aicardi-Goutieres-syndrome;-Alternative-promoter-usage;Alternative-splicing;-Antiviral-defense;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-DNA-binding;-Hydrolase;Immunity;-Innate-immunity;-Isopeptide-bond;-Metal-binding;mRNA-processing;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-RNA-binding;-RNA-mediated-gene-silencing;Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr1 | 154573962-154573966;M1;154573967-154574019 | 2 | 0 | 98 | 1 | 1 | 1 | 0 | 200 | 225 | 25 | -4.500000 | Hydrophilic;3.000000 | K->R(indbSNP:rs2229857). | 1 | 60 | 12806 | Unknown | 3.57211919712 |
1811.55716252,5807.84483542 |
0.000000 |
| 1923 | mutation | K.EQYS:Q:EHGLNFQR.L | A | S | 52 | 4 | 1 | PMVK | Q15126 | 3D-structure;-ATP-binding;-Cholesterol-biosynthesis;Cholesterol-metabolism;-Complete-proteome;-Disease-mutation;-Kinase;Lipid-biosynthesis;-Lipid-metabolism;-Nucleotide-binding;-Peroxisome;Polymorphism;-Reference-proteome;-Steroid-biosynthesis;Steroid-metabolism;-Sterol-biosynthesis;-Sterol-metabolism; | Intracellular | Atlas | chr1 | 154901625-154901652;154904827-154904832;M1;154904833-154904845 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 2 | 500 | Unknown | 3.44990156569 |
1882.50450483,5807.84483542 |
0.000000 |
| 1924 | mutation | R.GPDGVCLSGD:R.G | G | D | 357 | 10 | 1 | PBXIP1 | Q96AQ6 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Microtubule;-Nucleus;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr1 | 154919072-154919079;M1;154919080-154919111 | 2 | 0 | 12 | 1 | 0 | -1 | -1 | 75 | 150 | 75 | -3.500000 | Hydrophilic;3.000000 | G->D(indbSNP:rs2061690). | 27 | 62 | 9937 | Unknown | 1.81169570291 |
3651.24043838,5807.84483542 |
0.000000 |
| 1925 | mutation | K.PAPGSTAPA:AHGVTSAPDTR:.P | P | A | 134 | 9 | 1 | MUC1 | A0A087WWM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087WWM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 155161088-155161092;155161698-155161732;M1;155161733-155161760 | 2 | 0 | 218 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 10 | 1771 | Targetable-Peptide | 1.91517742881 |
3577.42930701,5807.84483542 |
0.000000 |
| 1925 | mutation | K.PAPGSTAPA:AHGVTSAPDTR:.P | P | A | 143 | 9 | 1 | MUC1 | A0A087X2A4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087X2A4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 155161088-155161092;155161698-155161732;M1;155161733-155161760 | 2 | 0 | 218 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 10 | 1771 | Targetable-Peptide | 1.91517742881 |
3577.42930701,5807.84483542 |
0.000000 |
| 1925 | mutation | K.PAPGSTAPA:AHGVTSAPDTR:.P | P | A | 134 | 9 | 1 | MUC1 | A0A0C4DGW3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0C4DGW3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr1 | 155161088-155161092;155161698-155161732;M1;155161733-155161760 | 2 | 0 | 218 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 10 | 1771 | Targetable-Peptide | 1.91517742881 |
3577.42930701,5807.84483542 |
0.000000 |
| 1925 | mutation | K.PAPGSTAPA:AHGVTSAPDTR:.P | P | A | 134 | 9 | 1 | MUC1 | P15941 | 3D-structure;-Alternative-splicing;-Autocatalytic-cleavage;Cell-membrane;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Lipoprotein;Membrane;-Nucleus;-Palmitate;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal;-Transmembrane;Transmembrane-helix;-Tumor-suppressor. | Membrane-Bound | Atlas | chr1 | 155161088-155161092;155161698-155161732;M1;155161733-155161760 | 2 | 0 | 218 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 10 | 1771 | Targetable | 1.91517742881 |
3577.42930701,5807.84483542 |
0.000000 |
| 1926 | mutation | K.:EGFDALDPFIPIL:ISNYNPK.E | V | I | 345 | 14 | 2 | DAP3 | P51398 | 3D-structure;-Acetylation;-Alternative-splicing;-Apoptosis;Complete-proteome;-Mitochondrion;-Polymorphism;-Reference-proteome;Ribonucleoprotein;-Ribosomal-protein;-Transit-peptide. | Intracellular | Atlas | chr1 | 155701821-155701824;155706736-155706775;M1;155706776-155706799 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 2 | 415 | Unknown | 2.66109661013 |
2702.9304692,5807.84483542 |
0.000000 |
| 1928 | mutation | R.AWLSSQA:AELER.E | V | A | 130 | 7 | 1 | NES | P48681 | Acetylation;-Coiled-coil;-Complete-proteome;-Developmental-protein;Intermediate-filament;-Isopeptide-bond;-Neurogenesis;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 156646648-156646667;M1;156646668-156646690 | 2 | 0 | 12 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs4278369). | 1 | 63 | 1498 | Unknown | 1.49925885973 |
4055.26138014,5807.84483542 |
2.430781 |
| 1929 | mutation | K.NSTL:SEPGSGR.G | P | L | 201 | 4 | 1 | HDGF | P51858 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Direct-protein-sequencing;-DNA-binding;-Growth-factor;Heparin-binding;-Isopeptide-bond;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 156713532-156713557;M1;156713558-156713571 | 2 | 2 | 100 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs4399146). | 9 | 29 | 7216 | Unknown | 5.89454272641 |
669.047535908,5807.84483542 |
0.000000 |
| 1930 | mutation | K.AATMPH:SVISDSPR.S | Y | H | 267 | 6 | 1 | FCRL5 | Q96RD9 | Alternative-splicing;-Cell-membrane;-Complete-proteome;Disulfide-bond;-Glycoprotein;-Immunoglobulin-domain;-Membrane;Polymorphism;-Receptor;-Reference-proteome;-Repeat;-Signal;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr1 | 157514067-157514096;M1;157514097-157514115 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 230 | 195 | -35 | -3.200000 | -0.500000 | Y->H(indbSNP:rs6679793). | 1 | 25 | 310 | Targetable | -1.30217791485 |
7233.75656412,5807.84483542 |
0.000000 |
| 1931 | mutation | R.SEQVHGVINLGNSLIER:.S | C | R | 1568 | 17 | 1 | SPTA1 | P02549 | 3D-structure;-Actin-capping;-Actin-binding;-Alternative-splicing;Calcium;-Cell-shape;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Disease-mutation;-Elliptocytosis;Hereditary-hemolytic-anemia;-Metal-binding;-Phosphoprotein;Polymorphism;-Pyropoikilocytosis;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr1 | 158612230-158612235;M1;158612236-158612287 | 1 | 0 | 11 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | C->R(indbSNP:rs863931). | 26 | 1 | 1 | Unknown | 1.65382145606 |
3699.73863871,5807.84483542 |
0.000000 |
| 1931 | mutation | R.SEQVHGVINLGNSLIER:.S | C | R | 1568 | 17 | 1 | SPTA1 | A0A087WZE4 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WZE4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}. | Intracellular | Atlas | chr1 | 158612230-158612235;M1;158612236-158612287 | 1 | 0 | 11 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | - | 26 | 1 | 1 | Unknown | 1.65382145606 |
3699.73863871,5807.84483542 |
0.000000 |
| 1932 | mutation | R.LKTEPEEV:FIEDSAQSDLK.E | S | F | 26 | 9 | 1 | IFI16 | A0A0A0MRB1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MRB1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 159021477-159021505;M1;159021506-159021540 | 3 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 7 | 1624 | Unknown | 4.26125070483 |
1280.28969262,5807.84483542 |
0.000000 |
| 1932 | mutation | R.LKTEPEEV:FIEDSAQSDLK.E | S | F | 568 | 9 | 1 | IFI16 | Q16666 | 3D-structure;-Acetylation;-Activator;-Alternative-splicing;-Apoptosis;Autophagy;-Complete-proteome;-Cytoplasm;-DNA-binding;-Immunity;Inflammatory-response;-Innate-immunity;-Isopeptide-bond;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Repressor;Transcription;-Transcription-regulation;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 159021477-159021505;M1;159021506-159021540 | 3 | 0 | 24 | 1 | 0 | 0 | 0 | 115 | 210 | 95 | Hydrophobic;2.800000 | -2.500000 | - | 18 | 7 | 1624 | Unknown | 4.26125070483 |
1280.28969262,5807.84483542 |
0.000000 |
| 1933 | mutation | K.AMEGLGMDEGDGEGNILPIME:SIMQNLLSK.D | Q | E | 176 | 21 | 3 | PEX19 | P40855 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Lipoprotein;-Membrane;-Methylation;-Peroxisome;Peroxisome-biogenesis;-Peroxisome-biogenesis-disorder;-Phosphoprotein;Prenylation;-Reference-proteome;-Zellweger-syndrome. | Intracellular | Atlas | chr1 | 160251864-160251896;M1;160251897-160251960 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 217 | Unknown | 2.94552370467 |
2377.6962364,5807.84483542 |
0 |
| 1933 | mutation | K.AMEGLGMDEGDGEGNILPIME:SIMQNLLSK.D | Q | E | 156 | 21 | 3 | PEX19 | Q5QNY5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5QNY5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 160251864-160251896;M1;160251897-160251960 | 1 | 1 | 2 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 217 | Unknown | 2.94552370467 |
2377.6962364,5807.84483542 |
0 |
| 1934 | mutation | R.LQNI:QNTIEETGNLAEQAR.A | R | Q | 1121 | 5 | 1 | LAMC1 | P11047 | Basement-membrane;-Cell-adhesion;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 183099543-183099559;M1;183099560-183099606 | 1 | 0 | 5 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs20559). | 1 | 9 | 1912 | Unknown | 3.53175761633 |
1817.89792367,5807.84483542 |
0.000000 |
| 1935 | mutation | K.TA:SDTSTEAYNLLLR.T | N | S | 1205 | 3 | 1 | LAMC1 | P11047 | Basement-membrane;-Cell-adhesion;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 183101571-183101581;M1;183101582-183101622 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | 3.53175761633 |
1817.89792367,5807.84483542 |
0.000000 |
| 1936 | mutation | K.TA:SDTSTEAYNLLLR.T | N | S | 1205 | 3 | 1 | LAMC1 | P11047 | Basement-membrane;-Cell-adhesion;-Coiled-coil;-Complete-proteome;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Laminin-EGF-like-domain;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 183101571-183101581;M1;183101582-183101622 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 250 | Unknown | 3.53175761633 |
1817.89792367,5807.84483542 |
0.000000 |
| 1937 | mutation | R.ASAILPGVP:GSETLSNEVFQESEEEKQPEVPSSLAK.G | L | P | 609 | 9 | 1 | FAM129A | Q9BZQ8 | Complete-proteome;-Cytoplasm;-Lipoprotein;-Membrane;-Myristate;Phosphoprotein;-Polymorphism;-Reference-proteome;-Stress-response; | Intracellular | Atlas | chr1 | 184764986-184765071;M1;184765072-184765100 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 3 | 15 | 555 | Unknown | 1.26629544982 |
4360.74078772,5807.84483542 |
1.660964 |
| 1938 | mutation | K.TSTN:NVEQYQAMVTSLEESLNK.E | S | N | 960 | 4 | 1 | TPR | P12270 | Acetylation;-Alternative-splicing;-Cell-cycle;-Cell-division;Centromere;-Chromosomal-rearrangement;-Chromosome;-Coiled-coil;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Kinetochore;-Membrane;-Mitosis;-mRNA-transport;-Nuclear-pore-complex;Nucleus;-Phosphoprotein;-Polymorphism;-Protein-transport;Proto-oncogene;-Reference-proteome;-Translocation;-Transport. | Intracellular | Atlas | chr1 | 186316429-186316487;M1;186316488-186316501 | 3 | 0 | 20 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs3753565). | 33 | 15 | 513 | Unknown | 3.21728949801 |
2156.09567158,5807.84483542 |
2.292481 |
| 1939 | mutation | R.SSQE:IYAHGTK.L | S | I | 890 | 5 | 1 | CFH | P08603 | 3D-structure;-Age-related-macular-degeneration;-Alternative-splicing;Complement-alternate-pathway;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Glycoprotein;-Hemolytic-uremic-syndrome;-Immunity;-Innate-immunity;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr1 | 196706660-196706676;M1;196706677-196706699 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 115 | 175 | 60 | Hydrophobic;4.500000 | -1.800000 | S->I(indbSNP:rs515299). | 6 | 2 | 77 | Unknown | 4.20000156978 |
1268.04863036,5807.84483542 |
0.000000 |
| 1940 | mutation | K.IQENMH:YGCASGYK.T | R | H | 115 | 6 | 1 | F13B | P05160 | Blood-coagulation;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Hemostasis;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal;-Sushi. | Intracellular | Atlas | chr1 | 197030992-197031020;M1;197031021-197031040 | 1 | 1 | 7 | 1 | 1 | 0 | -1 | 225 | 195 | -30 | -3.200000 | -0.500000 | R->H(indbSNP:rs6003). | 20 | 1 | 1 | Unknown | -0.431079187285 |
6239.85746095,5807.84483542 |
0.000000 |
| 1941 | mutation | K.NLPSLAE:QGASDPPTVASR.L | K | E | 323 | 7 | 1 | LAD1 | O00515 | Basement-membrane;-Complete-proteome;-Extracellular-matrix;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted. | Intracellular | Atlas | chr1 | 201355480-201355521;M1;201355522-201355543 | 2 | 2 | 14 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | K->E(indbSNP:rs4128458). | 1 | 52 | 10468 | Unknown | 1.70866215888 |
3760.34996792,5807.84483542 |
0.000000 |
| 1941 | mutation | K.NLPSLAE:QGASDPPTVASR.L | K | E | 337 | 7 | 1 | LAD1 | E9PDI4 | Basement-membrane-{ECO:0000256|PIRNR:PIRNR038144};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|PIRNR:PIRNR038144};Proteomics-identification-{ECO:0000213|EPD:E9PDI4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 201355480-201355521;M1;201355522-201355543 | 2 | 2 | 14 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 52 | 10468 | Unknown | 1.70866215888 |
3760.34996792,5807.84483542 |
0.000000 |
| 1942 | mutation | K.SP:APGMALGSGR.R | L | P | 243 | 2 | 1 | LAD1 | O00515 | Basement-membrane;-Complete-proteome;-Extracellular-matrix;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted. | Intracellular | Atlas | chr1 | 201355726-201355760;M1;201355761-201355768 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | L->P(indbSNP:rs12088790). | 1 | 10 | 1912 | Unknown | 1.70866215888 |
3760.34996792,5807.84483542 |
0.000000 |
| 1942 | mutation | K.SP:APGMALGSGR.R | L | P | 257 | 2 | 1 | LAD1 | E9PDI4 | Basement-membrane-{ECO:0000256|PIRNR:PIRNR038144};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|PIRNR:PIRNR038144};Proteomics-identification-{ECO:0000213|EPD:E9PDI4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr1 | 201355726-201355760;M1;201355761-201355768 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 1 | 10 | 1912 | Unknown | 1.70866215888 |
3760.34996792,5807.84483542 |
0.000000 |
| 1943 | mutation | K.QM:PSGPTKPSEGPAK.V | T | M | 295 | 2 | 1 | LMOD1 | P29536 | 3D-structure;-Actin-binding;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 201869213-201869256;M1;201869257-201869264 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs2820312). | 1 | 38 | 929 | Unknown | 0.705917542075 |
4984.90014686,5807.84483542 |
1.898371 |
| 1944 | mutation | K.LPGLVFLY:VEK.N | M | V | 157 | 9 | 1 | PRELP | P51888 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Leucine-rich-repeat;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 203452753-203452780;M1;203452781-203452792 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 185 | 155 | -30 | Hydrophobic;4.200000 | -1.500000 | M->V(indbSNP:rs2233726). | 21 | 4 | 628 | Unknown | 5.17380163716 |
818.999268896,5807.84483542 |
0.000000 |
| 1945 | mutation | -.DLVAFHDFSSDLE:HVPHLR.Y | N | H | 348 | 13 | 1 | PRELP | P51888 | Complete-proteome;-Direct-protein-sequencing;-Disulfide-bond;Extracellular-matrix;-Glycoprotein;-Leucine-rich-repeat;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr1 | 203455862-203455901;M1;203455902-203455922 | 1 | 1 | 3 | 1 | 0 | 0 | 0 | 160 | 195 | 35 | -3.200000 | -0.500000 | N->H(indbSNP:rs9439). | 6 | 6 | 1203 | Unknown | 5.17380163716 |
818.999268896,5807.84483542 |
0.000000 |
| 1947 | mutation | R.LFYGDLGPMPDQEELFGPVSLEQI:K.F | V | I | 274 | 24 | 1 | IRF6 | O14896 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Differentiation;Disease-mutation;-DNA-binding;-Nucleus;-Polymorphism;Reference-proteome;-Transcription;-Transcription-regulation; | Intracellular | Atlas | chr1 | 209964071-209964079;M1;209964080-209964152 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(commonpolymorphism;3%in | 1 | 1 | 30 | Unknown | 0.471665575898 |
5260.79714716,5807.84483542 |
1.000000 |
| 1947 | mutation | R.LFYGDLGPMPDQEELFGPVSLEQI:K.F | V | I | 274 | 24 | 1 | IRF6 | B1AJU4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1AJU4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 209964071-209964079;M1;209964080-209964152 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 30 | Unknown | 0.471665575898 |
5260.79714716,5807.84483542 |
1.000000 |
| 1948 | mutation | R.SQGSQAELH:ALPQLK:.D | P | A | 55 | 10 | 1 | PPP2R5A | Q15172 | Acetylation;-Alternative-splicing;-Centromere;-Chromosome;Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;-Nucleus;Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr1 | 212459584-212459614;M1;212459615-212459633;212502476-212502478 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 34 | 492 | Unknown | 1.61899424969 |
3966.15251235,5807.84483542 |
0.000000 |
| 1949 | mutation | K.AYVDDTPP:EQMK.A | A | P | 296 | 8 | 1 | EPRS | P07814 | 3D-structure;-Acetylation;-Aminoacyl-tRNA-synthetase;-ATP-binding;Complete-proteome;-Cytoplasm;-Ligase;-Multifunctional-enzyme;Nucleotide-binding;-Phosphoprotein;-Polymorphism;Protein-biosynthesis;-Reference-proteome;-Repeat;-RNA-binding; | Intracellular | Atlas | chr1 | 220197645-220197662;M1;220197663-220197687 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | A->P(indbSNP:rs35999099). | 9 | 1 | 124 | Unknown | 4.23493249518 |
1297.56262259,5807.84483542 |
0.000000 |
| 1949 | mutation | K.AYVDDTPP:EQMK.A | A | P | 296 | 8 | 1 | EPRS | V9GYZ6 | Aminoacyl-tRNA-synthetase-{ECO:0000256|RuleBase:RU363037};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Protein-biosynthesis-{ECO:0000256|RuleBase:RU363037};Proteomics-identification-{ECO:0000213|EPD:V9GYZ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 220197645-220197662;M1;220197663-220197687 | 1 | 0 | 3 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 9 | 1 | 124 | Unknown | 4.23493249518 |
1297.56262259,5807.84483542 |
0.000000 |
| 1950 | mutation | R.KLLPTLDQNF:E:VAYPDYCPLLIMTDASLVDLNTR.M | Q | E | 104 | 11 | 1 | MARC2 | X1WI34 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:X1WI34,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 220935126-220935159;M1;220935160-220935162;220936251-220936323 | 2 | 0 | 3 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 1 | Unknown | 1.30471791851 |
4221.52889117,5807.84483542 |
0.000000 |
| 1950 | mutation | R.KLLPTLDQNF:E:VAYPDYCPLLIMTDASLVDLNTR.M | Q | E | 203 | 11 | 1 | MARC2 | Q969Z3 | Acetylation;-Alternative-splicing;-Complete-proteome;-Isopeptide-bond;Membrane;-Mitochondrion;-Mitochondrion-outer-membrane;-Molybdenum;Oxidoreductase;-Peroxisome;-Polymorphism;-Reference-proteome;Transit-peptide;-Ubl-conjugation. | Intracellular | Atlas | chr1 | 220935126-220935159;M1;220935160-220935162;220936251-220936323 | 2 | 0 | 3 | 1 | 0 | -1 | -1 | 180 | 190 | 10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 1 | Unknown | 1.30471791851 |
4221.52889117,5807.84483542 |
0.000000 |
| 1951 | mutation | K.DREAAEGLGSH:ER.A | D | E | 22 | 12 | 1 | CAPN2 | P17655 | 3D-structure;-Acetylation;-Alternative-splicing;-Calcium;Cell-membrane;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Hydrolase;-Membrane;-Metal-binding;Polymorphism;-Protease;-Reference-proteome;-Repeat;-Thiol-protease. | Intracellular | Atlas | chr1 | 223900369-223900407;M1;223900408-223900414 | 4 | 0 | 251 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | D->E(indbSNP:rs25655). | 67 | 67 | 13063 | Unknown | 4.30206360634 |
1246.59575042,5807.84483542 |
0.000000 |
| 1952 | mutation | K.IEG:LDIHFIHVKPPQLPAGR:.T | H | R | 139 | 20 | 1 | EPHX1 | B1AQP9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1AQP9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 226019650-226019652;M1;226019653-226019660;226026354-226026405;M1;226026406-226026410 | 2 | 4 | 20 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | - | 21 | 53 | 16534 | Unknown | 4.47993075147 |
1145.06572575,5807.84483542 |
0.000000 |
| 1952 | mutation | K.IEG:LDIHFIHVKPPQLPAGR:.T | H | R | 139 | 20 | 1 | EPHX1 | P07099 | Aromatic-hydrocarbons-catabolism;-Complete-proteome;-Detoxification;Direct-protein-sequencing;-Endoplasmic-reticulum;-Hydrolase;-Membrane;Methylation;-Microsome;-Polymorphism;-Reference-proteome;Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr1 | 226019650-226019652;M1;226019653-226019660;226026354-226026405;M1;226026406-226026410 | 2 | 4 | 20 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(inalleleEPHX1*4;62%ofwild | 21 | 53 | 16534 | Targetable-Peptide | 4.47993075147 |
1145.06572575,5807.84483542 |
0.000000 |
| 1953 | mutation | -.RPEETTVSVQSAESSDA:LSWSR.L | S | A | 408 | 16 | 1 | ITPKB | P27987 | Alternative-splicing;-ATP-binding;-Calmodulin-binding;Complete-proteome;-Kinase;-Nucleotide-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr1 | 226923917-226923937;M1;226923938-226923986 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(indbSNP:rs6667260). | 3 | 55 | 2118 | Unknown | -1.90691719381 |
7725.14956388,5807.84483542 |
2.206052 |
| 1954 | mutation | R.LLTQDEGPALVPG:SR.L | G | S | 211 | 14 | 1 | IBA57 | Q5T440 | Acetylation;-Complete-proteome;-Disease-mutation;-Heme-biosynthesis;Hereditary-spastic-paraplegia;-Mitochondrion;-Neurodegeneration;Polymorphism;-Reference-proteome;-Transferase;-Transit-peptide. | Intracellular | Atlas | chr1 | 228362639-228362681;M1;228362682-228362690 | 2 | 6 | 15 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs2298014). | 1 | 33 | 879 | Unknown | 2.06183132602 |
3375.11320171,5807.84483542 |
2.571800 |
| 1955 | mutation | R.SSFYSLTSSNV:SK.W | I | V | 294 | 11 | 1 | NUP133 | Q8WUM0 | 3D-structure;-Acetylation;-Centromere;-Chromosome;-Complete-proteome;Kinetochore;-mRNA-transport;-Nuclear-pore-complex;-Nucleus;Phosphoprotein;-Polymorphism;-Protein-transport;-Reference-proteome; | Intracellular | Atlas | chr1 | 229631722-229631733;M1;229631734-229631767 | 2 | 0 | 9 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs11805194). | 1 | 22 | 1602 | Unknown | 2.4882649151 |
2934.50016488,5807.84483542 |
1.000000 |
| 1956 | mutation | K.TGCSLT:GASVDSTLAFNTYVHFQG:K.M | M | T | 268 | 6 | 1 | AGT | P01019 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Vasoactive;-Vasoconstrictor. | Intracellular | Atlas | chr1 | 230841938-230841946;230845740-230845793;M1;230845794-230845813 | 2 | 0 | 23 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | M->I(indbSNP:rs11568053). M->T(associatedwithessential |
1 | 27 | 569 | Unknown | 3.22173399964 |
2037.18548853,5807.84483542 |
1.292481 |
| 1957 | mutation | L.LSM:VVGVFTAPGLHLK.Q | T | M | 207 | 3 | 1 | AGT | P01019 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Vasoactive;-Vasoconstrictor. | Intracellular | Atlas | chr1 | 230845933-230845976;M1;230845977-230845987 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(associatedwithhypertension; | 1 | 7 | 98 | Unknown | 3.22173399964 |
2037.18548853,5807.84483542 |
0.000000 |
| 1958 | mutation | R.:GVFADEFIFLPGNTLK:.D | D | G | 519 | 1 | 1 | GNPAT | O15228 | Acetylation;-Acyltransferase;-Alternative-splicing;-Cataract;Complete-proteome;-Direct-protein-sequencing;-Disease-mutation;Dwarfism;-Membrane;-Peroxisome;-Phosphoprotein;-Reference-proteome;Rhizomelic-chondrodysplasia-punctata;-Transferase. | Intracellular | Atlas | chr1 | 231408086-231408090;M1;231408091-231408137;231409667-231409670 | 2 | 0 | 21 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | D->G(inRCDP2;70%reductionin | 1 | 26 | 4244 | Unknown | 1.67857923307 |
3864.20504017,5807.84483542 |
1.695456 |
| 1958 | mutation | R.:GVFADEFIFLPGNTLK:.D | D | G | 509 | 1 | 1 | GNPAT | Q5TBH8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TBH8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 231408086-231408090;M1;231408091-231408137;231409667-231409670 | 2 | 0 | 21 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 1 | 26 | 4244 | Unknown | 1.67857923307 |
3864.20504017,5807.84483542 |
1.695456 |
| 1959 | mutation | K.AKPPADPAAAASPS:R.A | C | S | 127 | 14 | 1 | EGLN1 | Q9GZT9 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Congenital-erythrocytosis;-Cytoplasm;-Dioxygenase;-Disease-mutation;Iron;-Metal-binding;-Nucleus;-Oxidoreductase;-Phosphoprotein;Polymorphism;-Reference-proteome;-S-nitrosylation;-Vitamin-C;-Zinc; | Intracellular | Atlas | chr1 | 231557247-231557254;M1;231557255-231557298 | 1 | 0 | 4 | 1 | 0 | 0 | 0 | 135 | 115 | -20 | -0.800000 | Hydrophilic;0.300000 | C->S(polymorphismpresentinthe | 1 | 12 | 1595 | Unknown | 1.6014370366 |
3975.07155927,5807.84483542 |
1.000000 |
| 1960 | mutation | R.YS:LAAAAERPPR.L | P | S | 118 | 2 | 1 | IRF2BP2 | Q7Z5L9 | Acetylation;-Activator;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Isopeptide-bond;-Metal-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr1 | 234744853-234744888;M1;234744889-234744895 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 6 | 3 | 624 | Unknown | 2.0617544734 |
3315.31764726,5807.84483542 |
0.000000 |
| 1961 | mutation | R.SPPGAAAP:AAAKPPPLSAK.D | S | P | 78 | 8 | 1 | IRF2BP2 | Q7Z5L9 | Acetylation;-Activator;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Isopeptide-bond;-Metal-binding;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repressor;-Transcription;Transcription-regulation;-Ubl-conjugation;-Zinc;-Zinc-finger. | Intracellular | Atlas | chr1 | 234744970-234745008;M1;234745009-234745033 | 1 | 0 | 22 | 1 | 0 | 0 | 0 | 115 | 145 | 30 | -1.600000 | 0.000000 | - | 1 | 60 | 11978 | Unknown | 2.0617544734 |
3315.31764726,5807.84483542 |
0.000000 |
| 1962 | mutation | R.CPDNTLGVDCIER:.K | Q | R | 1246 | 13 | 1 | NID1 | P14543 | 3D-structure;-Alternative-splicing;-Basement-membrane;-Calcium;Cell-adhesion;-Complete-proteome;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr1 | 236141169-236141173;M1;236141174-236141214 | 1 | 0 | 10 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs3213190). | 1 | 21 | 2344 | Unknown | 2.15685916163 |
3268.02958721,5807.84483542 |
2.092473 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | F6V2D4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Lectin-{ECO:0000256|RuleBase:RU102079,-ECO:0000256|SAAS:SAAS00519277};Proteomics-identification-{ECO:0000213|EPD:F6V2D4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | Q5T3P9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T3P9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | E9PRN3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PRN3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | B1ANM0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B1ANM0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | E9PJ77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PJ77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | H7BXD8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7BXD8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1963 | mutation | -.VGTI:PDQLDPGTLIVI:CGHVPSDAD:R.F | R | C | 36 | 16 | 1 | LGALS8 | O00214 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Lectin;-Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr1 | 236700808-236700822;M1;236700823-236700856;M1;236700857-236700885;236702178-236702182 | 1 | 0 | 15 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs1041935). | 34 | 79 | 25204 | Unknown | 1.06565783909 |
4521.36744174,5807.84483542 |
0.000000 |
| 1964 | mutation | R.AG:ALMMPLVDQ:LENR.L | E | G | 2017 | 2 | 1 | HEATR1 | Q9H583 | Acetylation;-Complete-proteome;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosome-biogenesis; | Intracellular | Atlas | chr1 | 236717024-236717039;236717897-236717925;M1;236717926-236717933 | 1 | 1 | 18 | 1 | -1 | 0 | 1 | 190 | 75 | -115 | -0.400000 | 0.000000 | E->G(polymorphism;confirmedat | 1 | 61 | 7976 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
2.813476 |
| 1964 | mutation | R.AG:ALMMPLVDQ:LENR.L | E | G | 1936 | 2 | 1 | HEATR1 | Q5T3Q7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T3Q7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236717024-236717039;236717897-236717925;M1;236717926-236717933 | 1 | 1 | 18 | 1 | -1 | 0 | 1 | 190 | 75 | -115 | -0.400000 | 0.000000 | - | 1 | 61 | 7976 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
2.813476 |
| 1965 | mutation | -.MSILQEHIGA:MK.K | V | A | 1854 | 9 | 1 | HEATR1 | Q9H583 | Acetylation;-Complete-proteome;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosome-biogenesis; | Intracellular | Atlas | chr1 | 236719182-236719192;M1;236719193-236719221 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs1885533). | 18 | 79 | 9812 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
2.551161 |
| 1965 | mutation | -.MSILQEHIGA:MK.K | V | A | 1773 | 9 | 1 | HEATR1 | Q5T3Q7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T3Q7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236719182-236719192;M1;236719193-236719221 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 18 | 79 | 9812 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
2.551161 |
| 1966 | mutation | K.NFGAENPDPFVPVLS:TAVK.L | N | S | 1694 | 15 | 1 | HEATR1 | Q9H583 | Acetylation;-Complete-proteome;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosome-biogenesis; | Intracellular | Atlas | chr1 | 236721643-236721659;M1;236721660-236721706 | 2 | 0 | 35 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | N->S(indbSNP:rs2275689). | 1 | 65 | 9007 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
1.684569 |
| 1966 | mutation | K.NFGAENPDPFVPVLS:TAVK.L | N | S | 1613 | 15 | 1 | HEATR1 | Q5T3Q7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T3Q7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 236721643-236721659;M1;236721660-236721706 | 2 | 0 | 35 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 65 | 9007 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
1.684569 |
| 1967 | mutation | K.ELYAGMPTT:QITALEK:.I | I | T | 1102 | 9 | 1 | HEATR1 | Q9H583 | Acetylation;-Complete-proteome;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosome-biogenesis; | Intracellular | Atlas | chr1 | 236737630-236737633;236737960-236737982;M1;236737983-236738011 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 3 | 2 | 107 | Unknown | 1.85502615357 |
3722.01584794,5807.84483542 |
2.321928 |
| 1968 | mutation | K.EFQQPL:QITESTIHEIPTK.D | S | L | 252 | 6 | 1 | CEP170 | Q5SW79 | 3D-structure;-Alternative-splicing;-Coiled-coil;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Microtubule;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr1 | 243354629-243354672;M1;243354673-243354692 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 21 | Unknown | 0.306432905957 |
5543.82859281,5807.84483542 |
0.000000 |
| 1968 | mutation | K.EFQQPL:QITESTIHEIPTK.D | S | L | 154 | 6 | 1 | CEP170 | H0Y2V6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y2V6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr1 | 243354629-243354672;M1;243354673-243354692 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 21 | Unknown | 0.306432905957 |
5543.82859281,5807.84483542 |
0.000000 |
| 1970 | mutation | R.EAG:AQEPLVDGCSGGGR.T | R | G | 34 | 3 | 1 | ERMP1 | Q7Z2K6 | Acetylation;-Alternative-splicing;-Complete-proteome;-Disulfide-bond;Endoplasmic-reticulum;-Glycoprotein;-Hydrolase;-Membrane;Metal-binding;-Metalloprotease;-Polymorphism;-Protease;Reference-proteome;-Transmembrane;-Transmembrane-helix;-Zinc. | Membrane-Bound | Atlas | chr9 | 5832880-5832927;M1;5832928-5832937 | 1 | 2 | 2 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 6 | 293 | Lumenal | 2.39617729398 |
3018.56239789,5807.84483542 |
0.000000 |
| 1970 | mutation | R.EAG:AQEPLVDGCSGGGR.T | R | G | 34 | 3 | 1 | ERMP1 | E7ER77 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ER77,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr9 | 5832880-5832927;M1;5832928-5832937 | 1 | 2 | 2 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 6 | 6 | 293 | Targetable-Peptide | 2.39617729398 |
3018.56239789,5807.84483542 |
0.000000 |
| 1975 | mutation | R.ALLAATGPNLPSVLTSPLGTQLVL:GPGNSALL:GCPIK.G | D | G | 1409 | 25 | 1 | ADAMTSL1 | Q8N6G6 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Extracellular-matrix;-Glycoprotein;-Hydrolase;Immunoglobulin-domain;-Polymorphism;-Reference-proteome;-Repeat; | Intracellular | Atlas | chr9 | 18829875-18829951;M1;18829952-18829975;18887828-18887845 | 1 | 0 | 5 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 15 | 17 | 116 | Unknown | -2.03668554668 |
7707.49607693,5807.84483542 |
0.000000 |
| 1975 | mutation | R.ALLAATGPNLPSVLTSPLGTQLVL:GPGNSALL:GCPIK.G | D | G | 110 | 25 | 1 | ADAMTSL1 | A2A343 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A2A343};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 18829875-18829951;M1;18829952-18829975;18887828-18887845 | 1 | 0 | 5 | 1 | -1 | 0 | 1 | 150 | 75 | -75 | -0.400000 | 0.000000 | - | 15 | 17 | 116 | Unknown | -2.03668554668 |
7707.49607693,5807.84483542 |
0.000000 |
| 1976 | mutation | K.ECFVST:PHPKPK.Q | R | T | 642 | 6 | 1 | DDX58 | A2A376 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A376,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 32457341-32457363;M1;32457364-32457383 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 140 | -85 | -0.700000 | -0.400000 | - | 1 | 1 | 238 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
0.000000 |
| 1976 | mutation | K.ECFVST:PHPKPK.Q | R | T | 845 | 6 | 1 | DDX58 | O95786 | 3D-structure;-Acetylation;-Alternative-splicing;-Antiviral-defense;ATP-binding;-Cell-junction;-Cell-membrane;-Cell-projection;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Disease-mutation;Helicase;-Host-virus-interaction;-Hydrolase;-Immunity;Innate-immunity;-Isopeptide-bond;-Membrane;-Metal-binding;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-RNA-binding;-Tight-junction;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr9 | 32457341-32457363;M1;32457364-32457383 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 140 | -85 | -0.700000 | -0.400000 | - | 1 | 1 | 238 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
0.000000 |
| 1977 | mutation | R.AAGFE:EIEQDLTQR.F | D | E | 377 | 5 | 1 | DDX58 | A2A376 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A376,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 32480220-32480250;M1;32480251-32480268 | 2 | 3 | 29 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 18 | 1660 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
2.642864 |
| 1977 | mutation | R.AAGFE:EIEQDLTQR.F | D | E | 580 | 5 | 1 | DDX58 | O95786 | 3D-structure;-Acetylation;-Alternative-splicing;-Antiviral-defense;ATP-binding;-Cell-junction;-Cell-membrane;-Cell-projection;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Disease-mutation;Helicase;-Host-virus-interaction;-Hydrolase;-Immunity;Innate-immunity;-Isopeptide-bond;-Membrane;-Metal-binding;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-RNA-binding;-Tight-junction;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr9 | 32480220-32480250;M1;32480251-32480268 | 2 | 3 | 29 | 1 | -1 | -1 | 0 | 150 | 190 | 40 | -3.500000 | Hydrophilic;3.000000 | D->E(indbSNP:rs17217280). | 1 | 18 | 1660 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
2.642864 |
| 1978 | mutation | K.ALFLYTSHLQ::K.Y | R | Q | 343 | 10 | 1 | DDX58 | A2A376 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A2A376,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 32480346-32480352;32481337-32481338;M1;32481339-32481370 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 2 | 200 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
1.953445 |
| 1978 | mutation | K.ALFLYTSHLQ::K.Y | R | Q | 546 | 10 | 1 | DDX58 | O95786 | 3D-structure;-Acetylation;-Alternative-splicing;-Antiviral-defense;ATP-binding;-Cell-junction;-Cell-membrane;-Cell-projection;Complete-proteome;-Cytoplasm;-Cytoskeleton;-Disease-mutation;Helicase;-Host-virus-interaction;-Hydrolase;-Immunity;Innate-immunity;-Isopeptide-bond;-Membrane;-Metal-binding;Nucleotide-binding;-Phosphoprotein;-Polymorphism;-Reference-proteome;Repeat;-RNA-binding;-Tight-junction;-Ubl-conjugation;-Zinc. | Intracellular | Atlas | chr9 | 32480346-32480352;32481337-32481338;M1;32481339-32481370 | 1 | 5 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 2 | 200 | Unknown | 3.17131508153 |
2158.63945035,5807.84483542 |
1.953445 |
| 1979 | mutation | R.EAVCIVLSDDTCSV:EK.I | D | V | 34 | 14 | 1 | VCP | C9JUP7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9JUP7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 35067943-35067953;M1;35067954-35067997 | 1 | 2 | 4 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 188 | Unknown | 5.61309835502 |
696.265552628,5807.84483542 |
0.000000 |
| 1979 | mutation | R.EAVCIVLSDDTCSV:EK.I | D | V | 79 | 14 | 1 | VCP | P55072 | 3D-structure;-Acetylation;-Amyotrophic-lateral-sclerosis;-ATP-binding;Autophagy;-Charcot-Marie-Tooth-disease;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;-DNA-damage;-DNA-repair;Endoplasmic-reticulum;-Hydrolase;-Lipid-binding;-Methylation;Neurodegeneration;-Neuropathy;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transport;Ubl-conjugation;-Ubl-conjugation-pathway. | Intracellular | Atlas | chr9 | 35067943-35067953;M1;35067954-35067997 | 1 | 2 | 4 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 188 | Unknown | 5.61309835502 |
696.265552628,5807.84483542 |
0.000000 |
| 1979 | mutation | R.EAVCIVLSDDTCSV:EK.I | D | V | 34 | 14 | 1 | VCP | C9IZA5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:C9IZA5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 35067943-35067953;M1;35067954-35067997 | 1 | 2 | 4 | 1 | -1 | 0 | 1 | 150 | 155 | 5 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 188 | Unknown | 5.61309835502 |
696.265552628,5807.84483542 |
0.000000 |
| 1980 | mutation | R.LLSDL::LPPSTGTFQEAQSR.L | S | L | 1227 | 5 | 1 | TLN1 | Q9Y490 | 3D-structure;-Acetylation;-Cell-junction;-Cell-membrane;Cell-projection;-Complete-proteome;-Cytoplasm;-Cytoskeleton;Direct-protein-sequencing;-Host-virus-interaction;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr9 | 35711744-35711789;35712001-35712002;M1;35712003-35712019 | 2 | 5 | 78 | 1 | 0 | 0 | 0 | 115 | 170 | 55 | Hydrophobic;3.800000 | -1.800000 | S->L(indbSNP:rs2295795). | 54 | 21 | 3735 | Unknown | 4.74851233153 |
991.711732047,5807.84483542 |
0.000000 |
| 1981 | mutation | K.EAGFPPGVVNIITGYGPTAGAAIAQH:MDVDK.V | V | M | 253 | 27 | 1 | ALDH1B1 | P30837 | Acetylation;-Complete-proteome;-Mitochondrion;-NAD;-Oxidoreductase;Polymorphism;-Reference-proteome;-Transit-peptide. | Intracellular | Atlas | chr9 | 38396420-38396501;M1;38396502-38396519 | 1 | 28 | 64 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs4878199). | 51 | 67 | 5164 | Unknown | 3.89539987508 |
1538.93858438,5807.84483542 |
1.750267 |
| 1982 | mutation | R.SLDFGDVPIDSDVHVSSTR:.S | C | R | 1506 | 19 | 1 | PRUNE2 | Q8WUY3 | Acetylation;-Alternative-splicing;-Apoptosis;-Complete-proteome;Cytoplasm;-Manganese;-Metal-binding;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr9 | 79322668-79322673;M1;79322674-79322731 | 1 | 0 | 7 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | - | 20 | 57 | 1052 | Unknown | -2.33973064538 |
7793.33486673,5807.84483542 |
0.000000 |
| 1982 | mutation | R.SLDFGDVPIDSDVHVSSTR:.S | C | R | 1147 | 19 | 1 | PRUNE2 | E9PDC2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PDC2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 79322668-79322673;M1;79322674-79322731 | 1 | 0 | 7 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | - | 20 | 57 | 1052 | Unknown | -2.33973064538 |
7793.33486673,5807.84483542 |
0.000000 |
| 1982 | mutation | R.SLDFGDVPIDSDVHVSSTR:.S | C | R | 1506 | 19 | 1 | PRUNE2 | A0A088AWP5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A088AWP5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 79322668-79322673;M1;79322674-79322731 | 1 | 0 | 7 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | - | 20 | 57 | 1052 | Unknown | -2.33973064538 |
7793.33486673,5807.84483542 |
0.000000 |
| 1982 | mutation | R.SLDFGDVPIDSDVHVSSTR:.S | C | R | 828 | 19 | 1 | PRUNE2 | H7BZH9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:H7BZH9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 79322668-79322673;M1;79322674-79322731 | 1 | 0 | 7 | 1 | 0 | 1 | 1 | 135 | 225 | 90 | -4.500000 | Hydrophilic;3.000000 | - | 20 | 57 | 1052 | Unknown | -2.33973064538 |
7793.33486673,5807.84483542 |
0.000000 |
| 1983 | mutation | E.SENG:AQKLMHLVVESFPSYR.D | S | G | 177 | 4 | 1 | C9orf64 | Q5T6V5 | Acetylation;-Complete-proteome;-Direct-protein-sequencing; | Intracellular | Atlas | chr9 | 86570310-86570363;M1;86570364-86570376 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 1 | 43 | Unknown | 3.11151686476 |
2239.4456959,5807.84483542 |
0.000000 |
| 1983 | mutation | E.SENG:AQKLMHLVVESFPSYR.D | S | G | 36 | 4 | 1 | C9orf64 | Q5T6V6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T6V6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 86570310-86570363;M1;86570364-86570376 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 1 | 43 | Unknown | 3.11151686476 |
2239.4456959,5807.84483542 |
0.000000 |
| 1983 | mutation | E.SENG:AQKLMHLVVESFPSYR.D | S | G | 36 | 4 | 1 | C9orf64 | Q5T6V7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T6V7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 86570310-86570363;M1;86570364-86570376 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 115 | 75 | -40 | -0.400000 | 0.000000 | - | 3 | 1 | 43 | Unknown | 3.11151686476 |
2239.4456959,5807.84483542 |
0.000000 |
| 1984 | mutation | R.DH:LVIPDGQEEEQEAAGEG:R.N | Q | H | 322 | 2 | 1 | GOLM1 | Q8NBJ4 | Alternative-initiation;-Coiled-coil;-Complete-proteome;-Glycoprotein;Golgi-apparatus;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Signal-anchor;-Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr9 | 88648302-88648310;88650282-88650331;M1;88650332-88650340 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | - | 3 | 3 | 627 | Lumenal | 1.61417806521 |
3900.83819351,5807.84483542 |
5.567855 |
| 1985 | mutation | K.:SLNPNFCFLQCTSAYPLQPEDVNLR.V | P | S | 33 | 1 | 2 | NANS | Q5TBR1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5TBR1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 100840542-100840545;M1;100840546-100840623 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 240 | Unknown | 4.66133568215 |
1034.24846374,5807.84483542 |
0.000000 |
| 1985 | mutation | K.:SLNPNFCFLQCTSAYPLQPEDVNLR.V | P | S | 174 | 1 | 2 | NANS | Q9NR45 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Dwarfism;Mental-retardation;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr9 | 100840542-100840545;M1;100840546-100840623 | 1 | 1 | 2 | 1 | 0 | 0 | 0 | 145 | 115 | -30 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 1 | 240 | Unknown | 4.66133568215 |
1034.24846374,5807.84483542 |
0.000000 |
| 1986 | mutation | K.TVESLEEI:LKK.A | T | I | 20 | 8 | 1 | PTGR1 | F2Z3J9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z3J9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 114341108-114341121;M1;114341122-114341147 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 4 | 889 | Unknown | 4.52171014384 |
1107.13113149,5807.84483542 |
0.000000 |
| 1986 | mutation | K.TVESLEEI:LKK.A | T | I | 202 | 8 | 1 | PTGR1 | Q14914 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-NADP;-Oxidoreductase;-Phosphoprotein;-Polymorphism; | Intracellular | Atlas | chr9 | 114341108-114341121;M1;114341122-114341147 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 140 | 175 | 35 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 4 | 889 | Unknown | 4.52171014384 |
1107.13113149,5807.84483542 |
0.000000 |
| 1987 | mutation | K.FGAAVLGNHTT:R.E | A | T | 131 | 11 | 1 | FKBP15 | A0A0A0MT60 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MT60,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 115968788-115968796;M1;115968797-115968830 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 18 | 23 | 1142 | Unknown | 1.53619803358 |
4097.45174003,5807.84483542 |
2.439545 |
| 1987 | mutation | K.FGAAVLGNHTT:R.E | A | T | 131 | 11 | 1 | FKBP15 | X6RKW4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:X6RKW4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 115968788-115968796;M1;115968797-115968830 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 18 | 23 | 1142 | Unknown | 1.53619803358 |
4097.45174003,5807.84483542 |
2.439545 |
| 1987 | mutation | K.FGAAVLGNHTT:R.E | A | T | 106 | 11 | 1 | FKBP15 | Q5T1M5 | Acetylation;-Actin-binding;-Alternative-splicing;-Cell-projection;Coiled-coil;-Complete-proteome;-Cytoplasm;-Endocytosis;-Endosome;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transport. | Intracellular | Atlas | chr9 | 115968788-115968796;M1;115968797-115968830 | 1 | 0 | 7 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs1133618). | 18 | 23 | 1142 | Unknown | 1.53619803358 |
4097.45174003,5807.84483542 |
2.439545 |
| 1988 | mutation | K.AQ:ALEVFCDMTSDGGGWI:VFLR.R | E | Q | 1826 | 2 | 1 | TNC | J3QSU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117791720-117791735;117792532-117792582;M1;117792583-117792589 | 1 | 3 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 61 | 4904 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
1.740655 |
| 1988 | mutation | K.AQ:ALEVFCDMTSDGGGWI:VFLR.R | E | Q | 1735 | 2 | 1 | TNC | E9PC84 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PC84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117791720-117791735;117792532-117792582;M1;117792583-117792589 | 1 | 3 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 61 | 4904 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
1.740655 |
| 1988 | mutation | K.AQ:ALEVFCDMTSDGGGWI:VFLR.R | E | Q | 571 | 2 | 1 | TNC | H0YGZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YGZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 117791720-117791735;117792532-117792582;M1;117792583-117792589 | 1 | 3 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 61 | 4904 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
1.740655 |
| 1988 | mutation | K.AQ:ALEVFCDMTSDGGGWI:VFLR.R | E | Q | 1645 | 2 | 1 | TNC | F5H7V9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7V9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117791720-117791735;117792532-117792582;M1;117792583-117792589 | 1 | 3 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 61 | 4904 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
1.740655 |
| 1988 | mutation | K.AQ:ALEVFCDMTSDGGGWI:VFLR.R | E | Q | 2008 | 2 | 1 | TNC | P24821 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Deafness;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Non-syndromic-deafness;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr9 | 117791720-117791735;117792532-117792582;M1;117792583-117792589 | 1 | 3 | 2 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | E->Q(indbSNP:rs13321). | 1 | 61 | 4904 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
1.740655 |
| 1989 | mutation | K.LIPGVEYLVSIIT:MK.G | A | T | 1599 | 13 | 1 | TNC | J3QSU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117803259-117803270;M1;117803271-117803310 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 27 | 3 | 155 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
0.000000 |
| 1989 | mutation | K.LIPGVEYLVSIIT:MK.G | A | T | 1508 | 13 | 1 | TNC | E9PC84 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PC84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117803259-117803270;M1;117803271-117803310 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 27 | 3 | 155 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
0.000000 |
| 1989 | mutation | K.LIPGVEYLVSIIT:MK.G | A | T | 344 | 13 | 1 | TNC | H0YGZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YGZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 117803259-117803270;M1;117803271-117803310 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 27 | 3 | 155 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
0.000000 |
| 1989 | mutation | K.LIPGVEYLVSIIT:MK.G | A | T | 1418 | 13 | 1 | TNC | F5H7V9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7V9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117803259-117803270;M1;117803271-117803310 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 27 | 3 | 155 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
0.000000 |
| 1989 | mutation | K.LIPGVEYLVSIIT:MK.G | A | T | 1781 | 13 | 1 | TNC | P24821 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Deafness;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Non-syndromic-deafness;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr9 | 117803259-117803270;M1;117803271-117803310 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | A->T(indbSNP:rs2274750). | 27 | 3 | 155 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
0.000000 |
| 1990 | mutation | R.VPGDQTSTIIR:.E | Q | R | 680 | 11 | 1 | TNC | J3QSU6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3QSU6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117846575-117846579;M1;117846580-117846614 | 1 | 5 | 21 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 43 | 52 | 1733 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
2.819811 |
| 1990 | mutation | R.VPGDQTSTIIR:.E | Q | R | 680 | 11 | 1 | TNC | E9PC84 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PC84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117846575-117846579;M1;117846580-117846614 | 1 | 5 | 21 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 43 | 52 | 1733 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
2.819811 |
| 1990 | mutation | R.VPGDQTSTIIR:.E | Q | R | 680 | 11 | 1 | TNC | F5H7V9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H7V9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 117846575-117846579;M1;117846580-117846614 | 1 | 5 | 21 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 43 | 52 | 1733 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
2.819811 |
| 1990 | mutation | R.VPGDQTSTIIR:.E | Q | R | 680 | 11 | 1 | TNC | P24821 | 3D-structure;-Alternative-splicing;-Cell-adhesion;-Coiled-coil;Complete-proteome;-Deafness;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-EGF-like-domain;Extracellular-matrix;-Glycoprotein;-Non-syndromic-deafness;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-Secreted; | Intracellular | Atlas | chr9 | 117846575-117846579;M1;117846580-117846614 | 1 | 5 | 21 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs1061494). | 43 | 52 | 1733 | Unknown | 3.47460862177 |
1804.48999052,5807.84483542 |
2.819811 |
| 1991 | mutation | -.TDAPDLPEENQAG:EGYR.A | R | G | 449 | 12 | 1 | C5 | P01031 | 3D-structure;-Cleavage-on-pair-of-basic-residues;Complement-alternate-pathway;-Complement-pathway;-Complete-proteome;Cytolysis;-Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunity;-Inflammatory-response;-Innate-immunity;Membrane-attack-complex;-Polymorphism;-Reference-proteome;-Secreted; | Intracellular | Atlas | chr9 | 123782397-123782414;M1;123782415-123782451 | 1 | 1 | 2 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | R->G(indbSNP:rs2230213). | 3 | 1 | 6 | Unknown | 2.76490506572 |
2602.00516866,5807.84483542 |
0.000000 |
| 1992 | mutation | P.:MDPATYGQFYGGDSYIILYNYR.H | V | M | 426 | 1 | 1 | GSN | A0A0A0MS51 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MS51,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124083575-124083578;M1;124083579-124083647 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 1992 | mutation | P.:MDPATYGQFYGGDSYIILYNYR.H | V | M | 460 | 1 | 1 | GSN | P06396 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-initiation;-Alternative-splicing;-Amyloid;-Amyloidosis;Calcium;-Cilium-biogenesis/degradation;-Complete-proteome;Corneal-dystrophy;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr9 | 124083575-124083578;M1;124083579-124083647 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 1992 | mutation | P.:MDPATYGQFYGGDSYIILYNYR.H | V | M | 445 | 1 | 1 | GSN | A0A0A0MT01 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MT01,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124083575-124083578;M1;124083579-124083647 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0 |
| 1993 | mutation | K.TPSAAYLW:MGTGASEAEK.T | V | M | 572 | 9 | 1 | GSN | A0A0A0MS51 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MS51,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124089633-124089660;M1;124089661-124089693 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0.000000 |
| 1993 | mutation | K.TPSAAYLW:MGTGASEAEK.T | V | M | 606 | 9 | 1 | GSN | P06396 | 3D-structure;-Acetylation;-Actin-capping;-Actin-binding;Alternative-initiation;-Alternative-splicing;-Amyloid;-Amyloidosis;Calcium;-Cilium-biogenesis/degradation;-Complete-proteome;Corneal-dystrophy;-Cytoplasm;-Cytoskeleton;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Secreted;-Signal. | Intracellular | Atlas | chr9 | 124089633-124089660;M1;124089661-124089693 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0.000000 |
| 1993 | mutation | K.TPSAAYLW:MGTGASEAEK.T | V | M | 591 | 9 | 1 | GSN | A0A0A0MT01 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MT01,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 124089633-124089660;M1;124089661-124089693 | 1 | 3 | 1 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 3 | 1 | 250 | Unknown | 5.77152049944 |
665.664814349,5807.84483542 |
0.000000 |
| 1994 | mutation | K.NSTIVFPLPIDT:LQGIIGAK.H | M | T | 275 | 12 | 1 | STOM | P27105 | Alternative-splicing;-Cell-membrane;-Complete-proteome;-Cytoplasm;Cytoplasmic-vesicle;-Cytoskeleton;-Direct-protein-sequencing;Lipoprotein;-Membrane;-Palmitate;-Phosphoprotein;-Reference-proteome. | Intracellular | Atlas | chr9 | 124103494-124103522;M1;124103523-124103560 | 2 | 2 | 16 | 1 | 0 | 0 | 0 | 185 | 140 | -45 | -0.700000 | -0.400000 | - | 19 | 5 | 1067 | Unknown | 3.70762602541 |
1609.31295545,5807.84483542 |
0.000000 |
| 1995 | mutation | R.FGMKPYTSFQEL:I:GEK.E | V | I | 481 | 13 | 1 | PTGS1 | P23219 | Alternative-splicing;-Complete-proteome;-Dioxygenase;-Disulfide-bond;EGF-like-domain;-Endoplasmic-reticulum;-Fatty-acid-biosynthesis;Fatty-acid-metabolism;-Glycoprotein;-Heme;-Iron;-Lipid-biosynthesis;Lipid-metabolism;-Membrane;-Metal-binding;-Microsome;-Oxidoreductase;Peroxidase;-Polymorphism;-Prostaglandin-biosynthesis;Prostaglandin-metabolism;-Reference-proteome;-Signal. | Intracellular | Atlas | chr9 | 125152581-125152620;M1;125152621-125152624;125154467-125154478 | 1 | 9 | 27 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs5794). | 1 | 3 | 699 | Unknown | 3.74558217563 |
1663.06553937,5807.84483542 |
0.000000 |
| 1995 | mutation | R.FGMKPYTSFQEL:I:GEK.E | V | I | 433 | 13 | 1 | PTGS1 | A0A087X296 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X296,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 125152581-125152620;M1;125152621-125152624;125154467-125154478 | 1 | 9 | 27 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 3 | 699 | Unknown | 3.74558217563 |
1663.06553937,5807.84483542 |
0.000000 |
| 1996 | mutation | R.LEQNLSGEEHV:QELLK.E | L | V | 93 | 11 | 1 | GOLGA1 | H0YE54 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YE54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 127674179-127674199;M1;127674200-127674233 | 1 | 0 | 11 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 33 | 85 | 2556 | Unknown | -0.869779677204 |
6772.50270775,5807.84483542 |
2.653266 |
| 1996 | mutation | R.LEQNLSGEEHV:QELLK.E | L | V | 317 | 11 | 1 | GOLGA1 | Q92805 | Coiled-coil;-Complete-proteome;-Golgi-apparatus;-Membrane;Phosphoprotein;-Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr9 | 127674179-127674199;M1;127674200-127674233 | 1 | 0 | 11 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs583134). | 33 | 85 | 2556 | Unknown | -0.869779677204 |
6772.50270775,5807.84483542 |
2.653266 |
| 1997 | mutation | R.:IGQPTLLLYVDAGPQ:TMTQR.L | E | Q | 139 | 15 | 1 | AK1 | Q5T9B7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5T9B7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 130630728-130630748;M1;130630749-130630791;130634101-130634104 | 1 | 7 | 10 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 28 | 4 | 980 | Unknown | 4.56091553866 |
1089.03410145,5807.84483542 |
0.000000 |
| 1997 | mutation | R.:IGQPTLLLYVDAGPQ:TMTQR.L | E | Q | 123 | 15 | 1 | AK1 | P00568 | 3D-structure;-Acetylation;-ATP-binding;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disease-mutation;Hereditary-hemolytic-anemia;-Kinase;-Nucleotide-binding;Phosphoprotein;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr9 | 130630728-130630748;M1;130630749-130630791;130634101-130634104 | 1 | 7 | 10 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | E->Q(indbSNP:rs8192462). | 28 | 4 | 980 | Unknown | 4.56091553866 |
1089.03410145,5807.84483542 |
0.000000 |
| 1997 | mutation | R.:IGQPTLLLYVDAGPQ:TMTQR.L | E | Q | 64 | 15 | 1 | AK1 | H0Y4J6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0Y4J6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 130630728-130630748;M1;130630749-130630791;130634101-130634104 | 1 | 7 | 10 | 1 | -1 | 0 | 1 | 190 | 180 | -10 | -3.500000 | Hydrophilic;0.200000 | - | 28 | 4 | 980 | Unknown | 4.56091553866 |
1089.03410145,5807.84483542 |
0.000000 |
| 1998 | mutation | R.TE:EAILISLAALQPGLT:QAGAR.H | I | T | 369 | 17 | 1 | C9orf114 | Q5T280 | 3D-structure;-Cell-cycle;-Cell-division;-Centromere;-Chromosome;Complete-proteome;-Kinetochore;-Methyltransferase;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr9 | 131585049-131585068;M1;131585069-131585112;131586025-131586034 | 2 | 0 | 7 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs2280843). | 3 | 55 | 7592 | Unknown | 0.00220361768352 |
5880.12195105,5807.84483542 |
2.547657 |
| 1999 | mutation | R.SEYSSGMEADV:AK.V | I | V | 694 | 11 | 1 | DDX31 | F8WAJ0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8WAJ0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 135470402-135470413;M1;135470414-135470447 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 59 | 2630 | Unknown | 0.0611338677932 |
5782.67410088,5807.84483542 |
1.867890 |
| 1999 | mutation | R.SEYSSGMEADV:AK.V | I | V | 799 | 11 | 1 | DDX31 | Q9H8H2 | Alternative-splicing;-ATP-binding;-Complete-proteome;-Helicase;Hydrolase;-Nucleotide-binding;-Nucleus;-Polymorphism;Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr9 | 135470402-135470413;M1;135470414-135470447 | 2 | 0 | 6 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs306547). | 3 | 59 | 2630 | Unknown | 0.0611338677932 |
5782.67410088,5807.84483542 |
1.867890 |
| 2000 | mutation | R.KAEEAM:EAQEVVEATPEGACTEPR.E | T | M | 175 | 6 | 1 | SURF6 | O75683 | Complete-proteome;-DNA-binding;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-RNA-binding. | Intracellular | Atlas | chr9 | 136199407-136199465;M1;136199466-136199485 | 1 | 0 | 10 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs886089). | 27 | 41 | 3531 | Unknown | 1.6574467818 |
3641.03822957,5807.84483542 |
2.138527 |
| 2001 | mutation | K.TVLEI:NTPKVEQVPIVDIMFNDFGEASQK.F | D | N | 1803 | 6 | 1 | COL5A1 | A0A087WXW9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Extracellular-matrix-{ECO:0000256|SAAS:SAAS00453322};Proteomics-identification-{ECO:0000213|EPD:A0A087WXW9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr9 | 137734020-137734038;M1;137734039-137734113 | 1 | 1 | 12 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 177 | Unknown | 1.84640495923 |
3658.73325051,5807.84483542 |
0 |
| 2001 | mutation | K.TVLEI:NTPKVEQVPIVDIMFNDFGEASQK.F | D | N | 1803 | 6 | 1 | COL5A1 | P20908 | 3D-structure;-Calcium;-Collagen;-Complete-proteome;Direct-protein-sequencing;-Disease-mutation;-Disulfide-bond;Ehlers-Danlos-syndrome;-Extracellular-matrix;-Heparin-binding;Hydroxylation;-Metal-binding;-Polymorphism;-Reference-proteome;Repeat;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr9 | 137734020-137734038;M1;137734039-137734113 | 1 | 1 | 12 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 177 | Unknown | 1.84640495923 |
3658.73325051,5807.84483542 |
0 |
| 2002 | mutation | K.EPGDQGPAHPPGADMS:R.S | H | R | 294 | 17 | 1 | MRPS2 | Q9Y399 | 3D-structure;-Complete-proteome;-Mitochondrion;-Polymorphism;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr9 | 138395916-138395968;M1;138395969-138395973 | 1 | 8 | 3 | 1 | 0 | 1 | 1 | 195 | 225 | 30 | -4.500000 | Hydrophilic;3.000000 | H->R(indbSNP:rs3748199). | 1 | 8 | 1840 | Unknown | 1.22657642636 |
4356.66492841,5807.84483542 |
0.000000 |
| 2003 | mutation | R.QSGPGAPNLDC:FYQQVTK.D | R | C | 1039 | 11 | 1 | SEC16A | F1T0I1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F1T0I1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 139368926-139368952;M1;139368953-139368986 | 1 | 5 | 2 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 30 | 2304 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
1.000000 |
| 2003 | mutation | R.QSGPGAPNLDC:FYQQVTK.D | R | C | 1039 | 11 | 1 | SEC16A | J3KNL6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KNL6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 139368926-139368952;M1;139368953-139368986 | 1 | 5 | 2 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 30 | 2304 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
1.000000 |
| 2003 | mutation | R.QSGPGAPNLDC:FYQQVTK.D | R | C | 861 | 11 | 1 | SEC16A | O15027 | Alternative-splicing;-Complete-proteome;-Endoplasmic-reticulum;ER-Golgi-transport;-Golgi-apparatus;-Membrane;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Transport. | Intracellular | Atlas | chr9 | 139368926-139368952;M1;139368953-139368986 | 1 | 5 | 2 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs3812594). | 1 | 30 | 2304 | Unknown | 0.732564037259 |
5096.62858652,5807.84483542 |
1.000000 |
| 2004 | mutation | R.:VSDGSLLYNAGNICNHF:FTR.G | A | V | 319 | 1 | 1 | UAP1L1 | Q3KQV9 | Alternative-splicing;-Complete-proteome;-Nucleotidyltransferase;Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr9 | 139973815-139973819;M1;139973820-139973871;M1;139973872-139973881 | 1 | 5 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs7037849). | 1 | 45 | 1816 | Unknown | 1.08945707402 |
4438.46630341,5807.84483542 |
2.177232 |
| 2005 | mutation | K.T:GPVEGAFSVYSDFLLYK.- | N | T | 246 | 1 | 1 | CTSB | P07858 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Hydrolase;Lysosome;-Polymorphism;-Protease;-Reference-proteome;-Secreted;Signal;-Thiol-protease;-Zymogen. | Intracellular | Atlas | chr8 | 11704564-11704616;M1;11704617-11704621 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 160 | 140 | -20 | -0.700000 | -0.400000 | - | 6 | 1 | 250 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PL32 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PL32,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PKQ7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PKQ7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PSG5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PSG5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PCB3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PCB3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PQM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PQM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PIS1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PIS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PLY3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PLY3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PHZ5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PHZ5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PS78 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PS78,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PJ67 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PJ67,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | P07858 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;-Hydrolase;Lysosome;-Polymorphism;-Protease;-Reference-proteome;-Secreted;Signal;-Thiol-protease;-Zymogen. | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | L->V(indbSNP:rs12338). | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PR54 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PR54,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PKX0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:E9PKX0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2006 | mutation | R.PSFHPV:SDELVNYVNK.R | L | V | 26 | 6 | 1 | CTSB | E9PNL5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PNL5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 11710852-11710887;M1;11710888-11710906 | 1 | 0 | 6 | 1 | 0 | 0 | 0 | 170 | 155 | -15 | Hydrophobic;4.200000 | -1.500000 | - | 18 | 48 | 11990 | Unknown | 5.855570194 |
658.047620571,5807.84483542 |
0.000000 |
| 2007 | mutation | K.V:MQVVDEKL:PGLLGNFPGPFEEEMK.G | I | V | 93 | 1 | 1 | ASAH1 | E7EMM4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMM4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 17924756-17924807;17927300-17927326;M1;17927327-17927330 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 44 | 10307 | Unknown | 4.0755791233 |
1404.81822369,5807.84483542 |
0.000000 |
| 2007 | mutation | K.V:MQVVDEKL:PGLLGNFPGPFEEEMK.G | I | V | 93 | 1 | 1 | ASAH1 | Q13510 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Epilepsy;-Glycoprotein;-Hydrolase;-Lysosome;Neurodegeneration;-Polymorphism;-Reference-proteome;-Signal. | Intracellular | Atlas | chr8 | 17924756-17924807;17927300-17927326;M1;17927327-17927330 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs1049874). | 1 | 44 | 10307 | Unknown | 4.0755791233 |
1404.81822369,5807.84483542 |
0.000000 |
| 2008 | mutation | R.WHELMLDKAPM::LK.V | V | M | 72 | 11 | 1 | ASAH1 | E7EMM4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7EMM4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 17927378-17927387;17928808-17928810;M1;17928811-17928844 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | - | 15 | 44 | 9563 | Unknown | 4.0755791233 |
1404.81822369,5807.84483542 |
0.000000 |
| 2008 | mutation | R.WHELMLDKAPM::LK.V | V | M | 72 | 11 | 1 | ASAH1 | Q13510 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Epilepsy;-Glycoprotein;-Hydrolase;-Lysosome;Neurodegeneration;-Polymorphism;-Reference-proteome;-Signal. | Intracellular | Atlas | chr8 | 17927378-17927387;17928808-17928810;M1;17928811-17928844 | 1 | 5 | 5 | 1 | 0 | 0 | 0 | 155 | 185 | 30 | Hydrophobic;1.900000 | -1.300000 | V->M(indbSNP:rs1071645). | 15 | 44 | 9563 | Unknown | 4.0755791233 |
1404.81822369,5807.84483542 |
0.000000 |
| 2009 | mutation | R.TIEDFESMNTYLQTSP:ASVFTSK.S | S | A | 276 | 17 | 1 | NAT1 | F5H5R8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F5H5R8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 18080144-18080195;M1;18080196-18080219 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 4 | 167 | Unknown | 1.27934981313 |
4297.30886082,5807.84483542 |
0.000000 |
| 2009 | mutation | R.TIEDFESMNTYLQTSP:ASVFTSK.S | S | A | 214 | 17 | 1 | NAT1 | P18440 | 3D-structure;-Acetylation;-Acyltransferase;-Complete-proteome;Cytoplasm;-Polymorphism;-Reference-proteome;-Transferase. | Intracellular | Atlas | chr8 | 18080144-18080195;M1;18080196-18080219 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 115 | 115 | 0 | Hydrophobic;1.800000 | -0.500000 | S->A(inalleleNAT1*11; | 3 | 4 | 167 | Unknown | 1.27934981313 |
4297.30886082,5807.84483542 |
0.000000 |
| 2010 | mutation | R.LLMVDL:GEDEDQYEQFMLPL:K.A | T | K | 695 | 21 | 1 | XPO7 | Q9UIA9 | Acetylation;-Complete-proteome;-Cytoplasm;-Direct-protein-sequencing;mRNA-transport;-Nuclear-pore-complex;-Nucleus;-Phosphoprotein;Polymorphism;-Protein-transport;-Reference-proteome;-Translocation; | Intracellular | Atlas | chr8 | 21848408-21848430;21849378-21849420;M1;21849421-21849425 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 111 | Unknown | 2.6816248017 |
2714.00395519,5807.84483542 |
0 |
| 2010 | mutation | R.LLMVDL:GEDEDQYEQFMLPL:K.A | T | K | 696 | 21 | 1 | XPO7 | E7ESC6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESC6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 21848408-21848430;21849378-21849420;M1;21849421-21849425 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 140 | 200 | 60 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 111 | Unknown | 2.6816248017 |
2714.00395519,5807.84483542 |
0 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RFF5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RJG5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RJG5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RIP4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RIP4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | Q15043 | Alternative-splicing;-Cell-membrane;-Cell-projection;Complete-proteome;-Glycoprotein;-Ion-transport;-Membrane;Polymorphism;-Reference-proteome;-Signal;-Transmembrane;Transmembrane-helix;-Transport;-Zinc;-Zinc-transport. | Membrane-Bound | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | L->P(indbSNP:rs896378). | 51 | 47 | 3703 | Targetable | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RGA7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RGA7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RFZ8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RFZ8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2011 | mutation | A.SS:PGAPAISAASFLQDLIHR.Y | L | P | 33 | 3 | 1 | SLC39A14 | E5RJ40 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RJ40,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 22262310-22262320;M1;22262321-22262376 | 2 | 2 | 77 | 1 | 0 | 0 | 0 | 170 | 145 | -25 | -1.600000 | 0.000000 | - | 51 | 47 | 3703 | Unknown | 1.04462324394 |
4707.31867902,5807.84483542 |
1.709026 |
| 2012 | mutation | P.ADP:TDLGGQTSPR.R | I | T | 68 | 4 | 1 | SORBS3 | H0YAZ3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAZ3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 22428644-22428657;M1;22428658-22428689 | 3 | 3 | 28 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 33 | 83 | 16870 | Unknown | 1.10544088842 |
4583.76291431,5807.84483542 |
0.000000 |
| 2012 | mutation | P.ADP:TDLGGQTSPR.R | I | T | 556 | 4 | 1 | SORBS3 | O60504 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-adhesion;Cell-junction;-Complete-proteome;-Cytoplasm;-Cytoskeleton;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SH3-domain. | Intracellular | Atlas | chr8 | 22428644-22428657;M1;22428658-22428689 | 3 | 3 | 28 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | I->T(indbSNP:rs2449331). | 33 | 83 | 16870 | Unknown | 1.10544088842 |
4583.76291431,5807.84483542 |
0.000000 |
| 2012 | mutation | P.ADP:TDLGGQTSPR.R | I | T | 167 | 4 | 1 | SORBS3 | H0YB51 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YB51,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};SH3-domain-{ECO:0000256|RuleBase:RU003338}. | Intracellular | Atlas | chr8 | 22428644-22428657;M1;22428658-22428689 | 3 | 3 | 28 | 1 | 0 | 0 | 0 | 175 | 140 | -35 | -0.700000 | -0.400000 | - | 33 | 83 | 16870 | Unknown | 1.10544088842 |
4583.76291431,5807.84483542 |
0.000000 |
| 2014 | mutation | R.IQWVDDTHALGIFPC:R.A | L | R | 321 | 16 | 1 | R3HCC1 | A0A0D9SF44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0D9SF44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 23150828-23150877;M1;23150878-23150882 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 170 | 225 | 55 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 66 | 6556 | Unknown | -1.09781146938 |
7092.85709537,5807.84483542 |
1.793220 |
| 2014 | mutation | R.IQWVDDTHALGIFPC:R.A | L | R | 403 | 16 | 1 | R3HCC1 | Q9Y3T6 | Alternative-splicing;-Coiled-coil;-Complete-proteome;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr8 | 23150828-23150877;M1;23150878-23150882 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 170 | 225 | 55 | -4.500000 | Hydrophilic;3.000000 | L->R(indbSNP:rs13530). | 6 | 66 | 6556 | Unknown | -1.09781146938 |
7092.85709537,5807.84483542 |
1.793220 |
| 2014 | mutation | R.IQWVDDTHALGIFPC:R.A | L | R | 363 | 16 | 1 | R3HCC1 | A0A0R4J2E2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0R4J2E2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 23150828-23150877;M1;23150878-23150882 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 170 | 225 | 55 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 66 | 6556 | Unknown | -1.09781146938 |
7092.85709537,5807.84483542 |
1.793220 |
| 2014 | mutation | R.IQWVDDTHALGIFPC:R.A | L | R | 98 | 16 | 1 | R3HCC1 | H0YBU3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YBU3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 23150828-23150877;M1;23150878-23150882 | 1 | 0 | 2 | 1 | 0 | 1 | 1 | 170 | 225 | 55 | -4.500000 | Hydrophilic;3.000000 | - | 6 | 66 | 6556 | Unknown | -1.09781146938 |
7092.85709537,5807.84483542 |
1.793220 |
| 2015 | mutation | K.MDENQFVAVTST:SAAK.V | N | S | 387 | 13 | 1 | DPYSL2 | Q16555 | 3D-structure;-Alternative-splicing;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Developmental-protein;-Differentiation;Direct-protein-sequencing;-Membrane;-Neurogenesis;-Phosphoprotein;Polymorphism;-Reference-proteome;-S-nitrosylation. | Intracellular | Atlas | chr8 | 26505154-26505194;M1;26505195-26505208 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 160 | 115 | -45 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 192 | Unknown | 4.87876975894 |
953.705147121,5807.84483542 |
4.087463 |
| 2016 | mutation | R.VTT:VASHTSDSDVPSS:VTEVVVK.L | G | S | 92 | 16 | 1 | CLU | H0YAS8 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YAS8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 27456089-27456115;M1;27456116-27456152;27457296-27457308 | 2 | 4 | 5 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 251 | Unknown | 4.90742154086 |
916.152166897,5807.84483542 |
0.000000 |
| 2016 | mutation | R.VTT:VASHTSDSDVPSS:VTEVVVK.L | G | S | 264 | 16 | 1 | CLU | H0YC35 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YC35,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 27456089-27456115;M1;27456116-27456152;27457296-27457308 | 2 | 4 | 5 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 251 | Unknown | 4.90742154086 |
916.152166897,5807.84483542 |
0.000000 |
| 2016 | mutation | R.VTT:VASHTSDSDVPSS:VTEVVVK.L | G | S | 401 | 16 | 1 | CLU | P10909 | Alternative-splicing;-Apoptosis;-Chaperone;-Complement-pathway;Complete-proteome;-Cytoplasm;-Cytoplasmic-vesicle;Direct-protein-sequencing;-Disulfide-bond;-Endoplasmic-reticulum;Glycoprotein;-Immunity;-Innate-immunity;-Membrane;-Microsome;Mitochondrion;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Ubl-conjugation. | Intracellular | Atlas | chr8 | 27456089-27456115;M1;27456116-27456152;27457296-27457308 | 2 | 4 | 5 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 1 | 2 | 251 | Unknown | 4.90742154086 |
916.152166897,5807.84483542 |
0.000000 |
| 2017 | mutation | K.SCSGV:EFSTSGHAYTD:R.G | T | R | 51 | 17 | 1 | VDAC3 | E5RHE1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RHE1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 42252633-42252651;42256229-42256263;M1;42256264-42256268 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.45638356122 |
761.359227447,5807.84483542 |
0.000000 |
| 2017 | mutation | K.SCSGV:EFSTSGHAYTD:R.G | T | R | 51 | 17 | 1 | VDAC3 | E5RJN6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RJN6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 42252633-42252651;42256229-42256263;M1;42256264-42256268 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.45638356122 |
761.359227447,5807.84483542 |
0.000000 |
| 2017 | mutation | K.SCSGV:EFSTSGHAYTD:R.G | T | R | 51 | 17 | 1 | VDAC3 | Q9Y277 | Acetylation;-Alternative-splicing;-Complete-proteome;-Ion-transport;Isopeptide-bond;-Membrane;-Mitochondrion;Mitochondrion-outer-membrane;-NAD;-Nucleotide-binding;-Phosphoprotein;Porin;-Reference-proteome;-Transmembrane;-Transmembrane-beta-strand;Transport;-Ubl-conjugation. | Membrane-Bound | Atlas | chr8 | 42252633-42252651;42256229-42256263;M1;42256264-42256268 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Intra-Cellular-Peptide | 5.45638356122 |
761.359227447,5807.84483542 |
0.000000 |
| 2017 | mutation | K.SCSGV:EFSTSGHAYTD:R.G | T | R | 51 | 17 | 1 | VDAC3 | E5RHZ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RHZ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 42252633-42252651;42256229-42256263;M1;42256264-42256268 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 140 | 225 | 85 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 250 | Unknown | 5.45638356122 |
761.359227447,5807.84483542 |
0.000000 |
| 2018 | mutation | R.LLEEALLC:LLPAELPAK.R | R | C | 2899 | 8 | 1 | PRKDC | P78527 | Acetylation;-Alternative-splicing;-ATP-binding;-Biological-rhythms;Complete-proteome;-Disease-mutation;-DNA-damage;-DNA-recombination;DNA-repair;-DNA-binding;-Kinase;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SCID;Serine/threonine-protein-kinase;-TPR-repeat;-Transferase; | Intracellular | Atlas | chr8 | 48739272-48739304;M1;48739305-48739329 | 1 | 1 | 1 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | R->C(indbSNP:rs4278157). | 3 | 5 | 471 | Unknown | 4.24571264528 |
1285.92881243,5807.84483542 |
2.807355 |
| 2019 | mutation | K.NLDLAVLA:LMQSSVDNTK.M | E | A | 1581 | 8 | 1 | PRKDC | P78527 | Acetylation;-Alternative-splicing;-ATP-binding;-Biological-rhythms;Complete-proteome;-Disease-mutation;-DNA-damage;-DNA-recombination;DNA-repair;-DNA-binding;-Kinase;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SCID;Serine/threonine-protein-kinase;-TPR-repeat;-Transferase; | Intracellular | Atlas | chr8 | 48798504-48798538;M1;48798539-48798564 | 1 | 0 | 2 | 1 | -1 | 0 | 1 | 190 | 115 | -75 | Hydrophobic;1.800000 | -0.500000 | - | 6 | 2 | 78 | Unknown | 4.24571264528 |
1285.92881243,5807.84483542 |
0.000000 |
| 2020 | mutation | K.LDLTLEIQTVGEQE:NGDEAPGVWMIPS:SDPAANLHPAKPK.D | T | S | 605 | 27 | 1 | PRKDC | P78527 | Acetylation;-Alternative-splicing;-ATP-binding;-Biological-rhythms;Complete-proteome;-Disease-mutation;-DNA-damage;-DNA-recombination;DNA-repair;-DNA-binding;-Kinase;-Nucleotide-binding;-Nucleus;Phosphoprotein;-Polymorphism;-Reference-proteome;-Repeat;-SCID;Serine/threonine-protein-kinase;-TPR-repeat;-Transferase; | Intracellular | Atlas | chr8 | 48843266-48843309;M1;48843310-48843347;48845579-48845624 | 1 | 2 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs8178033). | 3 | 1 | 27 | Unknown | 4.24571264528 |
1285.92881243,5807.84483542 |
0.000000 |
| 2021 | mutation | R.VEGGFLHGL:VEPQAAALGPEGGR.V | A | V | 160 | 10 | 1 | SOX17 | Q9H6I2 | 3D-structure;-Activator;-Complete-proteome;-Disease-mutation;DNA-binding;-Nucleus;-Reference-proteome;-Transcription;Transcription-regulation;-Wnt-signaling-pathway. | Intracellular | Atlas | chr8 | 55371757-55371788;M1;55371789-55371832 | 1 | 6 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 2 | 351 | Unknown | 1.38504252693 |
4310.60259406,5807.84483542 |
0.000000 |
| 2022 | mutation | R.TYLGDPIL:YDPQITAEELAEK:.T | P | L | 283 | 8 | 1 | TMEM68 | Q96MH6 | Alternative-splicing;-Complete-proteome;-Membrane;-Reference-proteome;Transmembrane;-Transmembrane-helix. | Membrane-Bound | Atlas | chr8 | 56652774-56652777;56656039-56656079;M1;56656080-56656105 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 54 | Targetable-Peptide | 0.766255650639 |
4922.55290616,5807.84483542 |
0.000000 |
| 2022 | mutation | R.TYLGDPIL:YDPQITAEELAEK:.T | P | L | 50 | 8 | 1 | TMEM68 | Q49A68 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:Q49A68,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 56652774-56652777;56656039-56656079;M1;56656080-56656105 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 1 | 54 | Unknown | 0.766255650639 |
4922.55290616,5807.84483542 |
0.000000 |
| 2023 | mutation | R.L:TGDCCFDYDR.A | F | L | 58 | 1 | 1 | SBSPON | Q8IVN8 | Complete-proteome;-Disulfide-bond;-Extracellular-matrix;-Glycoprotein;Polymorphism;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr8 | 74005095-74005130;M1;74005131-74005134 | 2 | 1 | 8 | 1 | 0 | 0 | 0 | 210 | 170 | -40 | Hydrophobic;3.800000 | -1.800000 | F->L(indbSNP:rs59331088). | 1 | 29 | 1750 | Unknown | 0.95996128006 |
4567.27071064,5807.84483542 |
1.927040 |
| 2024 | mutation | T.:R:TVCNFTDGALVQHQEWDGK.E | Q | R | 84 | 1 | 1 | FABP5 | Q01469 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Direct-protein-sequencing;-Disulfide-bond;-Lipid-binding;Phosphoprotein;-Reference-proteome;-Transport. | Intracellular | Atlas | chr8 | 82195767-82195771;M1;82195772-82195773;82196107-82196167 | 1 | 7 | 26 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 71 | 1 | 60 | Unknown | 5.55744274405 |
706.31079401,5807.84483542 |
0.000000 |
| 2024 | mutation | T.:R:TVCNFTDGALVQHQEWDGK.E | Q | R | 50 | 1 | 1 | FABP5 | I6L8B7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:I6L8B7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 82195767-82195771;M1;82195772-82195773;82196107-82196167 | 1 | 7 | 26 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | - | 71 | 1 | 60 | Unknown | 5.55744274405 |
706.31079401,5807.84483542 |
0.000000 |
| 2025 | mutation | K.GENQSP:IELHTK.D | V | I | 31 | 7 | 1 | CA3 | P07451 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Glutathionylation;-Lyase;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Zinc. | Intracellular | Atlas | chr8 | 86351975-86351996;M1;86351997-86352017 | 1 | 1 | 25 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | V->I(indbSNP:rs20571). | 66 | 46 | 386 | Unknown | 0.895693261342 |
4441.62729121,5807.84483542 |
2.323120 |
| 2026 | mutation | R.LAADS:VFVGTAGTVGRPK.N | T | S | 120 | 5 | 1 | TSPYL5 | Q86VY4 | Complete-proteome;-Growth-regulation;-Polymorphism; | Intracellular | Atlas | chr8 | 98289670-98289713;M1;98289714-98289730 | 1 | 13 | 1 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | -0.800000 | Hydrophilic;0.300000 | T->S(indbSNP:rs2635164). | 1 | 19 | 917 | Unknown | 2.35519741069 |
2999.45952003,5807.84483542 |
1.000000 |
| 2027 | mutation | K.TGVHHYSGD:NIELGTACGK.Y | N | D | 13 | 9 | 1 | RPL30 | A0A0B4J213 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0B4J213,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 99054906-99054941;M1;99054942-99054969 | 1 | 0 | 4 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 11 | 52 | 12915 | Unknown | 5.6868896948 |
690.815127018,5807.84483542 |
0.000000 |
| 2027 | mutation | K.TGVHHYSGD:NIELGTACGK.Y | N | D | 77 | 9 | 1 | RPL30 | E5RI99 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RI99,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 99054906-99054941;M1;99054942-99054969 | 1 | 0 | 4 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 11 | 52 | 12915 | Unknown | 5.6868896948 |
690.815127018,5807.84483542 |
0.000000 |
| 2027 | mutation | K.TGVHHYSGD:NIELGTACGK.Y | N | D | 77 | 9 | 1 | RPL30 | P62888 | 3D-structure;-Acetylation;-Complete-proteome;-Phosphoprotein;Reference-proteome;-Ribonucleoprotein;-Ribosomal-protein. | Intracellular | Atlas | chr8 | 99054906-99054941;M1;99054942-99054969 | 1 | 0 | 4 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 11 | 52 | 12915 | Unknown | 5.6868896948 |
690.815127018,5807.84483542 |
0.000000 |
| 2029 | mutation | R.IQAASPPLSGSFDIQA:HGH.I | Y | H | 943 | 17 | 1 | PKHD1L1 | Q86WI1 | Complete-proteome;-Glycoprotein;-Membrane;-Polymorphism;-Receptor;Reference-proteome;-Repeat;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr8 | 110437391-110437442;M1;110437443-110437454 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 230 | 195 | -35 | -3.200000 | -0.500000 | Y->H(indbSNP:rs16879534). | 3 | 2 | 32 | Targetable | -3.00070776801 |
7642.34542236,5807.84483542 |
1.584963 |
| 2030 | mutation | K.A:LDTQSSASEK.K | P | L | 215 | 2 | 1 | UTP23 | Q9BRU9 | Alternative-splicing;-Complete-proteome;-Nucleus;-Phosphoprotein;Polymorphism;-Reference-proteome;-Ribosome-biogenesis; | Intracellular | Atlas | chr8 | 117783967-117783974;M1;117783975-117784006 | 1 | 4 | 2 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs16888728). | 6 | 20 | 1533 | Unknown | 0.832920559626 |
4743.77298907,5807.84483542 |
1.000000 |
| 2031 | mutation | R.TV:NNLILTGPR.T | S | N | 389 | 3 | 1 | DEPTOR | Q8TB45 | Acetylation;-Alternative-splicing;-Complete-proteome;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 121061868-121061878;M1;121061879-121061907 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | S->N(indbSNP:rs4871827). | 3 | 47 | 6599 | Unknown | 1.80310923637 |
3657.77426207,5807.84483542 |
0.000000 |
| 2032 | mutation | R.SHTSEGAHLDITPD:SGAAGNSAGPK.S | N | D | 124 | 14 | 1 | NDRG1 | E7ESM1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ESM1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134251138-134251176;M1;134251177-134251219 | 1 | 1 | 10 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 24 | 3 | 744 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2032 | mutation | R.SHTSEGAHLDITPD:SGAAGNSAGPK.S | N | D | 377 | 14 | 1 | NDRG1 | Q92597 | Acetylation;-Alternative-splicing;-Cell-membrane;Charcot-Marie-Tooth-disease;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Membrane;-Microtubule;Neurodegeneration;-Neuropathy;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 134251138-134251176;M1;134251177-134251219 | 1 | 1 | 10 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 24 | 3 | 744 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2032 | mutation | R.SHTSEGAHLDITPD:SGAAGNSAGPK.S | N | D | 86 | 14 | 1 | NDRG1 | E5RJY1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RJY1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134251138-134251176;M1;134251177-134251219 | 1 | 1 | 10 | 1 | 0 | -1 | -1 | 160 | 150 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 24 | 3 | 744 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | E5RI76 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RI76,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | E5RGM5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RGM5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 22 | 8 | 1 | NDRG1 | E5RH82 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RH82,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 28 | 8 | 1 | NDRG1 | E5RIV1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RIV1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 65 | 8 | 1 | NDRG1 | E5RK17 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RK17,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | E5RJ98 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RJ98,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | E5RIR1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RIR1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | E5RIM2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E5RIM2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2033 | mutation | R.EMQDVDLT:EVKPLVEK.G | A | T | 11 | 8 | 1 | NDRG1 | Q92597 | Acetylation;-Alternative-splicing;-Cell-membrane;Charcot-Marie-Tooth-disease;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Membrane;-Microtubule;Neurodegeneration;-Neuropathy;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 134296494-134296523;M1;134296524-134296548 | 2 | 0 | 5 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 4.37396799851 |
1153.80834346,5807.84483542 |
0.000000 |
| 2035 | mutation | R.HVGSSETN:LLQHLLEACGR.- | K | N | 150 | 8 | 1 | PYCRL | Q53H96 | Acetylation;-Alternative-splicing;-Amino-acid-biosynthesis;Complete-proteome;-Cytoplasm;-NADP;-Oxidoreductase;-Polymorphism;Proline-biosynthesis;-Reference-proteome. | Intracellular | Atlas | chr8 | 144688702-144688735;M1;144688736-144688762 | 2 | 4 | 53 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | K->N(indbSNP:rs2242090). | 27 | 49 | 5791 | Unknown | 3.2239337075 |
2062.22144116,5807.84483542 |
2.938950 |
| 2035 | mutation | R.HVGSSETN:LLQHLLEACGR.- | K | N | 13 | 8 | 1 | PYCRL | B5MD87 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B5MD87,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144688702-144688735;M1;144688736-144688762 | 2 | 4 | 53 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 27 | 49 | 5791 | Unknown | 3.2239337075 |
2062.22144116,5807.84483542 |
2.938950 |
| 2035 | mutation | R.HVGSSETN:LLQHLLEACGR.- | K | N | 162 | 8 | 1 | PYCRL | A0A0A0MQS1 | Amino-acid-biosynthesis-{ECO:0000256|RuleBase:RU003903};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proline-biosynthesis-{ECO:0000256|RuleBase:RU003903};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MQS1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144688702-144688735;M1;144688736-144688762 | 2 | 4 | 53 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 27 | 49 | 5791 | Unknown | 3.2239337075 |
2062.22144116,5807.84483542 |
2.938950 |
| 2035 | mutation | R.HVGSSETN:LLQHLLEACGR.- | K | N | 13 | 8 | 1 | PYCRL | A0A087WTU2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A087WTU2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144688702-144688735;M1;144688736-144688762 | 2 | 4 | 53 | 1 | 1 | 0 | -1 | 200 | 160 | -40 | -3.500000 | Hydrophilic;0.200000 | - | 27 | 49 | 5791 | Unknown | 3.2239337075 |
2062.22144116,5807.84483542 |
2.938950 |
| 2036 | mutation | K.V:ILEQISAHGQK.H | A | V | 769 | 1 | 1 | FAM83H | J3KPS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KPS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144808468-144808505;M1;144808506-144808510 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 236 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
0.000000 |
| 2036 | mutation | K.V:ILEQISAHGQK.H | A | V | 1042 | 1 | 1 | FAM83H | Q6ZRV2 | Amelogenesis-imperfecta;-Biomineralization;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr8 | 144808468-144808505;M1;144808506-144808510 | 1 | 10 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 236 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
0.000000 |
| 2037 | mutation | R.FL:ELGPDGHQR.L | P | L | 225 | 2 | 1 | FAM83H | J3KPS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KPS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144810106-144810137;M1;144810138-144810145 | 1 | 17 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 16 | 2159 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
2.150978 |
| 2037 | mutation | R.FL:ELGPDGHQR.L | P | L | 498 | 2 | 1 | FAM83H | Q6ZRV2 | Amelogenesis-imperfecta;-Biomineralization;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr8 | 144810106-144810137;M1;144810138-144810145 | 1 | 17 | 1 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 3 | 16 | 2159 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
2.150978 |
| 2038 | mutation | R.QTFLSY:GDDFR.F | H | Y | 164 | 6 | 1 | FAM83H | J3KPS2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:J3KPS2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144810301-144810321;M1;144810322-144810340 | 1 | 16 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 10 | 1680 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
0.000000 |
| 2038 | mutation | R.QTFLSY:GDDFR.F | H | Y | 437 | 6 | 1 | FAM83H | Q6ZRV2 | Amelogenesis-imperfecta;-Biomineralization;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr8 | 144810301-144810321;M1;144810322-144810340 | 1 | 16 | 1 | 1 | 0 | 0 | 0 | 195 | 230 | 35 | -1.300000 | -2.300000 | - | 3 | 10 | 1680 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
0.000000 |
| 2039 | mutation | R.VNLH:HVD:FLR.V | Q | H | 201 | 4 | 1 | FAM83H | Q6ZRV2 | Amelogenesis-imperfecta;-Biomineralization;-Complete-proteome;Cytoplasm;-Cytoskeleton;-Disease-mutation;-Phosphoprotein;Polymorphism;-Reference-proteome. | Intracellular | Atlas | chr8 | 144811249-144811261;144811328-144811337;M1;144811338-144811352 | 1 | 9 | 32 | 1 | 0 | 0 | 0 | 180 | 195 | 15 | -3.200000 | -0.500000 | Q->H(indbSNP:rs9969600). | 80 | 85 | 16035 | Unknown | 0.689583984472 |
4865.86807302,5807.84483542 |
0.000000 |
| 2040 | mutation | K.VLTCYLLPQQPPL:SLE:DAGQQGSLSETWSDAPPSR.V | P | L | 422 | 13 | 1 | SCRIB | A0A0G2JNZ2 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JNZ2,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144892924-144892986;144893075-144893083;M1;144893084-144893124 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 51 | 10466 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 2040 | mutation | K.VLTCYLLPQQPPL:SLE:DAGQQGSLSETWSDAPPSR.V | P | L | 422 | 13 | 1 | SCRIB | A0A0G2JPP5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JPP5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144892924-144892986;144893075-144893083;M1;144893084-144893124 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 51 | 10466 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 2040 | mutation | K.VLTCYLLPQQPPL:SLE:DAGQQGSLSETWSDAPPSR.V | P | L | 341 | 13 | 1 | SCRIB | A0A0G2JMS7 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0G2JMS7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144892924-144892986;144893075-144893083;M1;144893084-144893124 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | - | 9 | 51 | 10466 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 2040 | mutation | K.VLTCYLLPQQPPL:SLE:DAGQQGSLSETWSDAPPSR.V | P | L | 422 | 13 | 1 | SCRIB | Q14160 | 3D-structure;-Alternative-splicing;-Cell-junction;-Cell-membrane;Cell-projection;-Coiled-coil;-Complete-proteome;-Cytoplasm;Developmental-protein;-Differentiation;-Disease-mutation;Host-virus-interaction;-Leucine-rich-repeat;-Membrane;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ubl-conjugation. | Intracellular | Atlas | chr8 | 144892924-144892986;144893075-144893083;M1;144893084-144893124 | 1 | 4 | 3 | 1 | 0 | 0 | 0 | 145 | 170 | 25 | Hydrophobic;3.800000 | -1.800000 | P->L(indbSNP:rs6558394). | 9 | 51 | 10466 | Unknown | 2.47365813695 |
2948.05503751,5807.84483542 |
0.000000 |
| 2042 | mutation | R.VLADPSN:DTK.G | D | N | 2381 | 7 | 1 | EPPK1 | A0A087X1U6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1U6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940266-144940280;M1;144940281-144940302 | 1 | 19 | 6 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 18 | 1 | 250 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
0.000000 |
| 2042 | mutation | R.VLADPSN:DTK.G | D | N | 2356 | 7 | 1 | EPPK1 | A0A075B730 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B730,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940266-144940280;M1;144940281-144940302 | 1 | 19 | 6 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 18 | 1 | 250 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
0.000000 |
| 2043 | mutation | R.AI:TGYTDPYTGQQISLFQAMQK.D | V | I | 1649 | 2 | 1 | EPPK1 | A0A087X1U6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1U6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940437-144940502;M1;144940503-144940509 | 1 | 20 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
0 |
| 2043 | mutation | R.AI:TGYTDPYTGQQISLFQAMQK.D | V | I | 1624 | 2 | 1 | EPPK1 | A0A075B730 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B730,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940437-144940502;M1;144940503-144940509 | 1 | 20 | 5 | 1 | 0 | 0 | 0 | 155 | 175 | 20 | Hydrophobic;4.500000 | -1.800000 | - | 1 | 1 | 250 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
0 |
| 2044 | mutation | R.STTQELMEDDC:VKR.Y | R | C | 2215 | 11 | 1 | EPPK1 | A0A087X1U6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1U6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940764-144940778;M1;144940779-144940812 | 1 | 23 | 4 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 9 | 24 | 1557 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
2.848079 |
| 2044 | mutation | R.STTQELMEDDC:VKR.Y | R | C | 2190 | 11 | 1 | EPPK1 | A0A075B730 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B730,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144940764-144940778;M1;144940779-144940812 | 1 | 23 | 4 | 1 | 1 | 0 | -1 | 225 | 135 | -90 | Hydrophobic;2.500000 | -1.000000 | - | 9 | 24 | 1557 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
2.848079 |
| 2045 | mutation | R.QVVSAVTA:LVEAAER.Q | T | A | 1507 | 8 | 1 | EPPK1 | A0A087X1U6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1U6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144942876-144942902;M1;144942903-144942927 | 2 | 31 | 67 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 83 | 57 | 3000 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
1.796658 |
| 2045 | mutation | R.QVVSAVTA:LVEAAER.Q | T | A | 1482 | 8 | 1 | EPPK1 | A0A075B730 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B730,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144942876-144942902;M1;144942903-144942927 | 2 | 31 | 67 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 83 | 57 | 3000 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
1.796658 |
| 2046 | mutation | K.LAAE:LSATLEQAAATAR.V | K | E | 544 | 4 | 1 | EPPK1 | A0A087X1U6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087X1U6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144945747-144945791;M1;144945792-144945804 | 1 | 32 | 29 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 50 | 2624 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
2.529586 |
| 2046 | mutation | K.LAAE:LSATLEQAAATAR.V | K | E | 519 | 4 | 1 | EPPK1 | A0A075B730 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A075B730,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 144945747-144945791;M1;144945792-144945804 | 1 | 32 | 29 | 1 | 1 | -1 | -2 | 200 | 190 | -10 | -3.500000 | Hydrophilic;3.000000 | - | 1 | 50 | 2624 | Unknown | 2.45772429581 |
2941.1187162,5807.84483542 |
2.529586 |
| 2047 | mutation | R.FLEVQYLTGGLIEPDM:PGRVPLDEALQR.G | T | M | 4539 | 16 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144990743-144990783;M1;144990784-144990833 | 2 | 30 | 9 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 6 | 5 | 1250 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2048 | mutation | R.DDGTS:QLLLPLSDAR.K | G | S | 4008 | 5 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144992342-144992377;M1;144992378-144992393 | 1 | 46 | 1 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | - | 3 | 1 | 245 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0 |
| 2049 | mutation | R.TLLQA:SGCLAGIYLEDTKEK.V | G | A | 3490 | 5 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144993881-144993930;M1;144993931-144993947 | 1 | 46 | 4 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | Hydrophobic;1.800000 | -0.500000 | G->A(indbSNP:rs35261863). | 1 | 4 | 851 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2050 | mutation | R.M:LLQGSGCLAGIYLEDTK.E | T | M | 3486 | 1 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144993887-144993942;M1;144993943-144993947 | 1 | 45 | 3 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | T->M(indbSNP:rs34725742). | 3 | 1 | 244 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2051 | mutation | N.VIAGVWLEEV:GQK.L | A | V | 3171 | 10 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144994874-144994887;M1;144994888-144994919 | 2 | 46 | 3 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs35858667). | 3 | 13 | 2295 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2052 | mutation | R.CVEDPEM:GLCLLPLTDK.A | T | M | 3014 | 7 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144995324-144995358;M1;144995359-144995381 | 1 | 49 | 2 | 1 | 0 | 0 | 0 | 140 | 185 | 45 | Hydrophobic;1.900000 | -1.300000 | - | 1 | 1 | 246 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0 |
| 2054 | mutation | R.QLLSPGTALILLEAQV:ASGFLLDPVR.N | A | V | 2871 | 16 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144995753-144995787;M1;144995788-144995837 | 1 | 44 | 2 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 81 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2055 | mutation | R.LAQGHTTVDELAW:R.E | R | W | 2821 | 13 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144995930-144995938;M1;144995939-144995978 | 2 | 40 | 8 | 1 | 1 | 0 | -1 | 225 | 255 | 30 | -0.900000 | -3.400000 | R->W(indbSNP:rs35723243). | 1 | 2 | 482 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2056 | mutation | R.LQEDKEQMV:QQLAEETQGFQR.T | A | V | 2491 | 9 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144996995-144997035;M1;144997036-144997064 | 1 | 44 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 124 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0 |
| 2057 | mutation | R.LQ:QLAEEDLAQQR.A | R | Q | 2431 | 2 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144997178-144997215;M1;144997216-144997223 | 1 | 43 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 211 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0 |
| 2058 | mutation | R.QLAEEDAAQ:QR.A | R | Q | 1963 | 9 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144998609-144998619;M1;144998620-144998648 | 1 | 49 | 1 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 125 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2059 | mutation | R.REEAV:VDAQQQK.R | A | V | 1545 | 5 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 144999848-144999873;M1;144999874-144999890 | 1 | 28 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 53 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2060 | mutation | R.EQLQ:QEQ:ALLEEIER.H | R | Q | 1386 | 4 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 145001476-145001503;145001577-145001587;M1;145001588-145001601 | 2 | 11 | 93 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | R->Q(indbSNP:rs11136334). | 115 | 53 | 8372 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
1.000000 |
| 2061 | mutation | R.QALHSLELHYQAFLQ:DSQDAGGFGPEDR.L | R | Q | 1075 | 15 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 145003880-145003923;M1;145003924-145003970 | 1 | 2 | 3 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 250 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
1.000000 |
| 2062 | mutation | R.GLHQSIEEFQ:AK.I | R | Q | 613 | 10 | 1 | PLEC | E9PMV1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PMV1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145006981-145006991;M1;145006992-145007023 | 1 | 10 | 11 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 15 | 2 | 115 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2062 | mutation | R.GLHQSIEEFQ:AK.I | R | Q | 706 | 10 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 145006981-145006991;M1;145006992-145007023 | 1 | 10 | 11 | 1 | 1 | 0 | -1 | 225 | 180 | -45 | -3.500000 | Hydrophilic;0.200000 | - | 15 | 2 | 115 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2063 | mutation | R.VDGAD:WGVDLPSVEAQLGSHR.G | E | D | 587 | 5 | 1 | PLEC | E9PMV1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PMV1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145007017-145007068;M1;145007069-145007086 | 1 | 10 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 100 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2063 | mutation | R.VDGAD:WGVDLPSVEAQLGSHR.G | E | D | 680 | 5 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 145007017-145007068;M1;145007069-145007086 | 1 | 10 | 2 | 1 | -1 | -1 | 0 | 190 | 150 | -40 | -3.500000 | Hydrophilic;3.000000 | - | 3 | 1 | 100 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
0.000000 |
| 2064 | mutation | K.AGVAAPATQVV:QVTLQSVQR.R | A | V | 548 | 11 | 1 | PLEC | E9PMV1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PMV1,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145007155-145007186;M1;145007187-145007221 | 2 | 10 | 78 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 34 | 5244 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
2.018095 |
| 2064 | mutation | K.AGVAAPATQVV:QVTLQSVQR.R | A | V | 641 | 11 | 1 | PLEC | Q15149 | 3D-structure;-Acetylation;-Actin-binding;-Alternative-splicing;Cell-junction;-Coiled-coil;-Complete-proteome;-Cytoplasm;Cytoskeleton;-Direct-protein-sequencing;-Disease-mutation;Epidermolysis-bullosa;-Limb-girdle-muscular-dystrophy;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat. | Intracellular | Atlas | chr8 | 145007155-145007186;M1;145007187-145007221 | 2 | 10 | 78 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | A->V(indbSNP:rs11136336). | 1 | 34 | 5244 | Unknown | 4.71044349034 |
1011.42419275,5807.84483542 |
2.018095 |
| 2065 | mutation | R.ELEEEGPQEQPEEEA:TPGHEEEEPVAPSTVAPR.W | V | A | 621 | 15 | 1 | PARP10 | E9PK67 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PK67,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145057809-145057867;M1;145057868-145057914 | 2 | 6 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 57 | 10617 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
0.000000 |
| 2065 | mutation | R.ELEEEGPQEQPEEEA:TPGHEEEEPVAPSTVAPR.W | V | A | 630 | 15 | 1 | PARP10 | Q53GL7 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr8 | 145057809-145057867;M1;145057868-145057914 | 2 | 6 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | V->A(indbSNP:rs11544989). | 3 | 57 | 10617 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
0.000000 |
| 2065 | mutation | R.ELEEEGPQEQPEEEA:TPGHEEEEPVAPSTVAPR.W | V | A | 642 | 15 | 1 | PARP10 | E9PNI7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PNI7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145057809-145057867;M1;145057868-145057914 | 2 | 6 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 57 | 10617 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
0.000000 |
| 2065 | mutation | R.ELEEEGPQEQPEEEA:TPGHEEEEPVAPSTVAPR.W | V | A | 630 | 15 | 1 | PARP10 | E9PPE7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PPE7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 145057809-145057867;M1;145057868-145057914 | 2 | 6 | 7 | 1 | 0 | 0 | 0 | 155 | 115 | -40 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 57 | 10617 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
0.000000 |
| 2066 | mutation | R.LQGSELSLVPHYDV:LEPEELAENTSGGDHPSTQGPR.A | I | V | 249 | 14 | 1 | PARP10 | E9PK67 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PK67,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145059353-145059424;M1;145059425-145059467 | 1 | 7 | 19 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 49 | 60 | 8289 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
1.402162 |
| 2066 | mutation | R.LQGSELSLVPHYDV:LEPEELAENTSGGDHPSTQGPR.A | I | V | 249 | 14 | 1 | PARP10 | Q53GL7 | 3D-structure;-Acetylation;-Complete-proteome;-Cytoplasm;Glycosyltransferase;-NAD;-Nucleus;-Phosphoprotein;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr8 | 145059353-145059424;M1;145059425-145059467 | 1 | 7 | 19 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | I->V(indbSNP:rs11136344). | 49 | 60 | 8289 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
1.402162 |
| 2066 | mutation | R.LQGSELSLVPHYDV:LEPEELAENTSGGDHPSTQGPR.A | I | V | 261 | 14 | 1 | PARP10 | E9PNI7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PNI7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr8 | 145059353-145059424;M1;145059425-145059467 | 1 | 7 | 19 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 49 | 60 | 8289 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
1.402162 |
| 2066 | mutation | R.LQGSELSLVPHYDV:LEPEELAENTSGGDHPSTQGPR.A | I | V | 249 | 14 | 1 | PARP10 | E9PPE7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E9PPE7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 145059353-145059424;M1;145059425-145059467 | 1 | 7 | 19 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 49 | 60 | 8289 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
1.402162 |
| 2066 | mutation | R.LQGSELSLVPHYDV:LEPEELAENTSGGDHPSTQGPR.A | I | V | 164 | 14 | 1 | PARP10 | F8W8G7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F8W8G7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr8 | 145059353-145059424;M1;145059425-145059467 | 1 | 7 | 19 | 1 | 0 | 0 | 0 | 175 | 155 | -20 | Hydrophobic;4.200000 | -1.500000 | - | 49 | 60 | 8289 | Unknown | 1.14361564324 |
4515.58914364,5807.84483542 |
1.402162 |
| 2067 | mutation | K.ASSAAAPHTVSYPDNL:NYR.D | T | N | 248 | 17 | 1 | DGAT1 | O75907 | Acyltransferase;-Complete-proteome;-Endoplasmic-reticulum;-Membrane;Phosphoprotein;-Reference-proteome;-Transferase;-Transmembrane; | Membrane-Bound | Atlas | chr8 | 145541678-145541680;145541757-145541765;M1;145541766-145541818 | 2 | 1 | 6 | 1 | 0 | 0 | 0 | 140 | 160 | 20 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 13 | 3005 | Lumenal | 0.855132288243 |
4938.39599657,5807.84483542 |
0.000000 |
| 2072 | deletion | L.:TLHPAPNAPQPCQVSSLSER.K | R | LT | 541 | 1 | 1 | PLCD3 | Q8N3E9 | Calcium;-Complete-proteome;-Cytoplasm;-Hydrolase;-Lipid-degradation;Lipid-metabolism;-Membrane;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Transducer. | Intracellular | Atlas | chr17 | 43192486-43192549;43192551-43192554 | 1 | 0 | 28 | 1 | 1 | 0 | -1 | 225 | 310 | 85 | -0.700000 | -0.400000 | - | 58 | 80 | 578 | Unknown | -0.587712671327 |
6311.66702841,5807.84483542 |
0.000000 |
| 2078 | deletion | K.:FSPTLELQGEFSPLQSSLPCDIHLVNLR.T | SS | FSP | 1026 | 3 | 1 | MAN2A1 | Q16706 | Complete-proteome;-Disulfide-bond;-Glycoprotein;-Glycosidase;Golgi-apparatus;-Hydrolase;-Membrane;-Metal-binding;-Phosphoprotein;Polymorphism;-Reference-proteome;-Signal-anchor;-Transmembrane;Transmembrane-helix;-Zinc. | Membrane-Bound | Atlas | chr5 | 109190930-109190935;109190938-109191023 | 1 | 0 | 2 | 1 | 0 | 0 | 0 | 230 | 470 | 240 | -1.600000 | 0.000000 | - | 1 | 16 | 533 | Lumenal | 0.776576285355 |
5022.82027328,5807.84483542 |
1.903677 |
| 2079 | deletion | A.PGTK:GAAAAAAAAAAK.V | T | GA | 149 | 6 | 1 | RPL14 | P50914 | 3D-structure;-Acetylation;-Complete-proteome;Direct-protein-sequencing;-Isopeptide-bond;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Ribonucleoprotein;Ribosomal-protein;-Triplet-repeat-expansion;-Ubl-conjugation. | Intracellular | Atlas | chr3 | 40503501-40503518;40503521-40503558 | 1 | 4 | 1 | 1 | 0 | 0 | 0 | 140 | 190 | 50 | Hydrophobic;1.800000 | -0.500000 | - | 3 | 2 | 499 | Unknown | 4.7332379565 |
978.478355566,5807.84483542 |
0.000000 |
| 2081 | deletion | R.LAAAAAA:QSVYAFSAR.P | AAAAAAA | LAAAAAAQ | 13 | 8 | 1 | GPX1 | P07203 | 3D-structure;-Acetylation;-Alternative-splicing;-Complete-proteome;Cytoplasm;-Oxidoreductase;-Peroxidase;-Phosphoprotein;-Polymorphism;Reference-proteome;-Selenocysteine. | Intracellular | Atlas | chr3 | 49395642-49395673;49395676-49395699 | 3 | 12 | 37 | 1 | 0 | 0 | 0 | 805 | 1040 | 235 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 24 | 5853 | Unknown | 5.37554277467 |
757.037995222,5807.84483542 |
0.000000 |
| 2081 | deletion | R.LAAAAAA:QSVYAFSAR.P | AAAAAAA | LAAAAAAQ | 13 | 8 | 1 | GPX1 | A0A087WUQ6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A087WUQ6,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr3 | 49395642-49395673;49395676-49395699 | 3 | 12 | 37 | 1 | 0 | 0 | 0 | 805 | 1040 | 235 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 24 | 5853 | Unknown | 5.37554277467 |
757.037995222,5807.84483542 |
0.000000 |
| 2083 | deletion | K.:DGDSVMVLPTI:EEEAK.K | P | IE | 194 | 12 | 1 | PRDX6 | P30041 | 3D-structure;-Acetylation;-Antioxidant;-Complete-proteome;-Cytoplasm;Cytoplasmic-vesicle;-Direct-protein-sequencing;-Disulfide-bond;Hydrolase;-Lipid-degradation;-Lipid-metabolism;-Lysosome;Multifunctional-enzyme;-Oxidoreductase;-Peroxidase;-Phosphoprotein;Redox-active-center;-Reference-proteome. | Intracellular | Atlas | chr1 | 173455537-173455540;173456873-173456906;173456909-173456927 | 1 | 0 | 9 | 1 | 0 | -1 | -1 | 145 | 365 | 220 | -3.500000 | Hydrophilic;3.000000 | - | 21 | 1 | 243 | Unknown | 6.96244797573 |
523.229837698,5807.84483542 |
0.000000 |
| 2084 | deletion | -.EENVCEEN:SPVDQSDFFYEFSK.L | K | EN | 937 | 7 | 1 | ZCCHC6 | Q5VYS8 | Alternative-splicing;-Complete-proteome;-Cytoplasm;-Magnesium;Manganese;-Metal-binding;-Nucleotidyltransferase;-Phosphoprotein;Polymorphism;-Reference-proteome;-Repeat;-Transferase;-Zinc; | Intracellular | Atlas | chr9 | 88937805-88937851;88937854-88937877 | 1 | 0 | 3 | 1 | 1 | -1 | -2 | 200 | 350 | 150 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 41 | 775 | Unknown | -1.28110108212 |
7197.24196694,5807.84483542 |
2.015363 |
| 2084 | deletion | -.EENVCEEN:SPVDQSDFFYEFSK.L | K | EN | 226 | 7 | 1 | ZCCHC6 | X6R3Q3 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:X6R3Q3,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr9 | 88937805-88937851;88937854-88937877 | 1 | 0 | 3 | 1 | 1 | -1 | -2 | 200 | 350 | 150 | -3.500000 | Hydrophilic;0.200000 | - | 6 | 41 | 775 | Unknown | -1.28110108212 |
7197.24196694,5807.84483542 |
2.015363 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSRLTVDKSRWQEGNVFSCSVM | APPVLDSDGSFFLYSK | 275 | 0 | 5 | IGHG4 | P01861 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | -1 | -1 | 0 | 5465 | 2470 | -2995 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSRLTVDKSRWQEGNVFSCSVM | APPVLDSDGSFFLYSK | 275 | 0 | 5 | IGHG4 | A0A0G2JPD4 | - | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | -1 | -1 | 0 | 5465 | 2470 | -2995 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 412 | 0 | 5 | IGHG1 | A0A0G2JNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 243 | 0 | 5 | IGHG1 | A0A0A0MS07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS07,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 421 | 0 | 5 | IGHG1 | A0A087X079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 278 | 0 | 5 | IGHG1 | P01857 | 3D-structure;-Chromosomal-rearrangement;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-C-region;-Immunoglobulin-domain;-Reference-proteome; | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 278 | 0 | 5 | IGHG1 | A0A0A0MS08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Targetable-Peptide | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 414 | 0 | 5 | IGHG1 | A0A087WV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 410 | 0 | 5 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2094 | IG gene | -.A:PPVLDSDGSFFLYSK:.H | PPVLDSDGSFFLYSKLTVDKSRWQQGNVFSCSVM | APPVLDSDGSFFLYSK | 423 | 0 | 5 | IGHG1 | A0A087WYC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106090975-106090978;106207926-106207972;106235597-106235599 | 2 | 2 | 4 | 3 | 0 | -1 | -1 | 5430 | 2470 | -2960 | Hydrophobic;1.800000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2098 | IG gene | G.W:YRVVSVLTVLHQDWLNGK.E | VEVHNAKTKPREEQFNST | W | 162 | 1 | 3 | IGHG4 | P01861 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106091299-106091357;106174243-106174248 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 3065 | 255 | -2810 | -0.900000 | -3.400000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2098 | IG gene | G.W:YRVVSVLTVLHQDWLNGK.E | VEVHNAKTKPREEQFNST | W | 162 | 1 | 3 | IGHG4 | A0A0G2JPD4 | - | Intracellular | Atlas | chr14 | 106091299-106091357;106174243-106174248 | 1 | 2 | 2 | 1 | 0 | 0 | 0 | 3065 | 255 | -2810 | -0.900000 | -3.400000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | VDGVEVHNAKTKPREEQFNS | N | 159 | 1 | 4 | IGHG4 | P01861 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | -1 | 0 | 1 | 3305 | 160 | -3145 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | VDGVEVHNAKTKPREEQFNS | N | 159 | 1 | 4 | IGHG4 | A0A0G2JPD4 | - | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | -1 | 0 | 1 | 3305 | 160 | -3145 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 315 | 2 | 4 | IGHG1 | A0A0G2JNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 324 | 2 | 4 | IGHG1 | A0A087X079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 181 | 2 | 4 | IGHG1 | P01857 | 3D-structure;-Chromosomal-rearrangement;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-C-region;-Immunoglobulin-domain;-Reference-proteome; | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 181 | 2 | 4 | IGHG1 | A0A0A0MS08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Targetable-Peptide | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 317 | 2 | 4 | IGHG1 | A0A087WV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 313 | 2 | 4 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2099 | IG gene | Y.N:TYRVVSVLTVLHQDWLNGK.- | S | NT | 326 | 2 | 4 | IGHG1 | A0A087WYC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106091302-106091360;106208291-106208296 | 1 | 2 | 3 | 1 | 0 | 0 | 0 | 115 | 300 | 185 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2101 | IG gene | -.TYI:CNVDHKPSNTK:.D | TCNVDHKPSNTKV | ICNVDHKPSNTK | 82 | 2 | 4 | IGHG4 | P01861 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106091506-106091509;106092124-106092158;106209163-106209171 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 2050 | 1930 | -120 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2101 | IG gene | -.TYI:CNVDHKPSNTK:.D | TCNVDHKPSNTKV | ICNVDHKPSNTK | 82 | 2 | 4 | IGHG4 | A0A0G2JPD4 | - | Intracellular | Atlas | chr14 | 106091506-106091509;106092124-106092158;106209163-106209171 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 2050 | 1930 | -120 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 3.9422718051 |
1428.88235002,5807.84483542 |
0 |
| 2101 | IG gene | -.TYI:CNVDHKPSNTK:.D | TCNVDHKPSNTKV | ICNVDHKPSNTK | 82 | 2 | 4 | IGHG2 | P01859 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106091506-106091509;106092124-106092158;106209163-106209171 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 2050 | 1930 | -120 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2101 | IG gene | -.TYI:CNVDHKPSNTK:.D | TCNVDHKPSNTKV | ICNVDHKPSNTK | 82 | 2 | 4 | IGHG2 | A0A0G2JN06 | - | Intracellular | Atlas | chr14 | 106091506-106091509;106092124-106092158;106209163-106209171 | 1 | 2 | 1 | 1 | 1 | 1 | 0 | 2050 | 1930 | -120 | Hydrophobic;4.500000 | -1.800000 | - | 3 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2105 | IG gene | -.TT:PMLDSDGSFFLYSK.L | P | T | 274 | 1 | 3 | IGHG2 | P01859 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106109653-106109700;106207849-106207853 | 2 | 0 | 72 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2105 | IG gene | -.TT:PMLDSDGSFFLYSK.L | P | T | 274 | 1 | 3 | IGHG2 | A0A0G2JN06 | - | Intracellular | Atlas | chr14 | 106109653-106109700;106207849-106207853 | 2 | 0 | 72 | 1 | 0 | 0 | 0 | 145 | 140 | -5 | -0.700000 | -0.400000 | - | 1 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 421 | 11 | 3 | IGHG1 | A0A0G2JNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 252 | 11 | 3 | IGHG1 | A0A0A0MS07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS07,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 430 | 11 | 3 | IGHG1 | A0A087X079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 287 | 11 | 3 | IGHG1 | P01857 | 3D-structure;-Chromosomal-rearrangement;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-C-region;-Immunoglobulin-domain;-Reference-proteome; | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 287 | 11 | 3 | IGHG1 | A0A0A0MS08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Targetable-Peptide | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 423 | 11 | 3 | IGHG1 | A0A087WV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 419 | 11 | 3 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2109 | IG gene | -.TTPPVLDSDGSP:CPHPGRR.? | F | PCPHPGRR | 432 | 11 | 3 | IGHG1 | A0A087WYC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106109811-106109836;106207945-106207977 | 1 | 0 | 6 | 1 | 0 | 2 | 2 | 210 | 1290 | 1080 | -1.600000 | 0.000000 | - | 15 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2111 | IG gene | G.H:FNSTFRVVSVLTVVHQDWLNGK.E | VEVHNAKTKPREEQ | H | 161 | 1 | 1 | IGHG2 | P01859 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106110026-106110095;106110201-106110207 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 2440 | 195 | -2245 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2111 | IG gene | G.H:FNSTFRVVSVLTVVHQDWLNGK.E | VEVHNAKTKPREEQ | H | 161 | 1 | 1 | IGHG2 | A0A0G2JN06 | - | Intracellular | Atlas | chr14 | 106110026-106110095;106110201-106110207 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 2440 | 195 | -2245 | -3.200000 | -0.500000 | - | 1 | 1 | 0 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 458 | 25 | 2 | IGHG1 | A0A0G2JNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 289 | 25 | 2 | IGHG1 | A0A0A0MS07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS07,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 467 | 25 | 2 | IGHG1 | A0A087X079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 324 | 25 | 2 | IGHG1 | P01857 | 3D-structure;-Chromosomal-rearrangement;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-C-region;-Immunoglobulin-domain;-Reference-proteome; | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 324 | 25 | 2 | IGHG1 | A0A0A0MS08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Targetable-Peptide | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 460 | 25 | 2 | IGHG1 | A0A087WV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 456 | 25 | 2 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2116 | IG gene | R.WQQGNVFSCSVMHEALHNHYTQKS:G.S | L | G | 469 | 25 | 2 | IGHG1 | A0A087WYC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106134717-106134723;106207833-106207908 | 1 | 1 | 64 | 1 | 0 | 0 | 0 | 170 | 75 | -95 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 433 | 1 | 2 | IGHG1 | A0A0G2JNK4 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|MaxQB:A0A0G2JNK4,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 264 | 1 | 2 | IGHG1 | A0A0A0MS07 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS07,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 442 | 1 | 2 | IGHG1 | A0A087X079 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 299 | 1 | 2 | IGHG1 | P01857 | 3D-structure;-Chromosomal-rearrangement;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-C-region;-Immunoglobulin-domain;-Reference-proteome; | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 299 | 1 | 2 | IGHG1 | A0A0A0MS08 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:A0A0A0MS08,Reference-proteome-{ECO:0000313|Proteomes:UP000005640};Transmembrane-helix-{ECO:0000256|SAM:Phobius}. | Membrane-Bound | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Targetable-Peptide | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 435 | 1 | 2 | IGHG1 | A0A087WV47 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 431 | 1 | 2 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2124 | IG gene | -.SG:WQQGNVFSCSVMHEALHNHYTQK.S | R | G | 444 | 1 | 2 | IGHG1 | A0A087WYC5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106207833-106207906;106235533-106235538 | 1 | 6 | 20 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2125 | IG gene | R.QPQ:VYTLPPSRDELTK.N | PGKGLEWIGEIYHSGSTNYNPSLKSRVTISVDKSKNQFSLKLSSVTAADTAVSQCDNWFDPWGQGTLVTVSSASTKGPSVFPLAPSSKSTSGGTAALGCLVKDYFPEPVTVSWNSGALTSGVHTFPAVLQSSGLYSLSSVVTVPSSSLGTQTYICNVNHKPSNTKVDKKVEPKSCDKTHTCPPCPAPELLGGPSVFLFPPKPKDTLMISRTPEVTCVVVDVSHEDPEVKFNWYVDGVEVHNAKTKPREEQYNSTYRVVSVLTVLHQDWLNGKEYKCKVSNKALPAPIEKTISKAKGQPRE | QPQ | 61 | 3 | 1 | IGHG1 | A0A087X1C7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106208070-106208112;106211009-106211021 | 1 | 2 | 26 | 1 | 5 | 0 | -5 | 46800 | 505 | -46295 | -3.500000 | Hydrophilic;0.200000 | - | 1 | 1 | 0 | Unknown | 6.8415990708 |
527.122445614,5807.84483542 |
0 |
| 2129 | IG gene | -.SGL:YTCNVNHKPSNTK:.A | SLSSVVTVPSSSLGTQTYTCNVNHKPSNTKVDKRVELKTPLGDTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCP | TCNVNHKPSNTK | 64 | 4 | 2 | IGHG3 | A0A075B6N8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6N8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106209275-106209278;106237464-106237504;106237558-106237566 | 1 | 0 | 1 | 1 | 3 | 2 | -1 | 14860 | 1905 | -12955 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 6.69305150818 |
553.180600202,5807.84483542 |
0.000000 |
| 2129 | IG gene | -.SGL:YTCNVNHKPSNTK:.A | SLSSVVTVPSSSLGTQTYTCNVNHKPSNTKVDKRVELKTPLGDTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCP | TCNVNHKPSNTK | 204 | 4 | 2 | IGHG3 | A0A087WXL8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106209275-106209278;106237464-106237504;106237558-106237566 | 1 | 0 | 1 | 1 | 3 | 2 | -1 | 14860 | 1905 | -12955 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 6.69305150818 |
553.180600202,5807.84483542 |
0.000000 |
| 2129 | IG gene | -.SGL:YTCNVNHKPSNTK:.A | SLSSVVTVPSSSLGTQTYTCNVNHKPSNTKVDKRVELKTPLGDTTHTCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCPEPKSCDTPPPCPRCP | TCNVNHKPSNTK | 208 | 4 | 2 | IGHG3 | A0A087WVW2 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 106209275-106209278;106237464-106237504;106237558-106237566 | 1 | 0 | 1 | 1 | 3 | 2 | -1 | 14860 | 1905 | -12955 | -0.700000 | -0.400000 | - | 3 | 1 | 0 | Unknown | 6.69305150818 |
553.180600202,5807.84483542 |
0.000000 |
| 2153 | IG gene | Q.C:AASSYLSLTPEQWK.S | SNNKY | C | 62 | 1 | 7 | IGLC1 | A0A075B6K8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23227710-23227716;23248708-23248753 | 1 | 5 | 7 | 1 | 1 | 0 | -1 | 865 | 135 | -730 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 0 | Unknown | 5.52118974214 |
740.590696928,5807.84483542 |
0 |
| 2153 | IG gene | Q.C:AASSYLSLTPEQWK.S | SNNKY | C | 62 | 1 | 7 | IGLC2 | A0A075B6K9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23227710-23227716;23248708-23248753 | 1 | 5 | 7 | 1 | 1 | 0 | -1 | 865 | 135 | -730 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 0 | Unknown | - |
- |
0 |
| 2153 | IG gene | Q.C:AASSYLSLTPEQWK.S | SNNKY | C | 62 | 1 | 7 | IGLC3 | A0A075B6L0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6L0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23227710-23227716;23248708-23248753 | 1 | 5 | 7 | 1 | 1 | 0 | -1 | 865 | 135 | -730 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 0 | Unknown | 6.59014247243 |
562.428980301,5807.84483542 |
0 |
| 2153 | IG gene | Q.C:AASSYLSLTPEQWK.S | SNNKY | C | 171 | 1 | 7 | IGLL5 | A0A0B4J231 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0B4J231};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23227710-23227716;23248708-23248753 | 1 | 5 | 7 | 1 | 1 | 0 | -1 | 865 | 135 | -730 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 0 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0 |
| 2153 | IG gene | Q.C:AASSYLSLTPEQWK.S | SNNKY | C | 170 | 1 | 7 | IGLL5 | B9A064 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Immunoglobulin-domain;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr22 | 23227710-23227716;23248708-23248753 | 1 | 5 | 7 | 1 | 1 | 0 | -1 | 865 | 135 | -730 | Hydrophobic;2.500000 | -1.000000 | - | 1 | 1 | 0 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0 |
| 2154 | IG gene | K.AGVETTK:PTK.P | T | KPTKP | 57 | 7 | 11 | IGLC2 | A0A075B6K9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237700-23237726;23264928-23264938 | 1 | 7 | 6 | 1 | 0 | 2 | 2 | 140 | 830 | 690 | -3.900000 | Hydrophilic;3.000000 | - | 27 | 1 | 0 | Unknown | - |
- |
0 |
| 2154 | IG gene | K.AGVETTK:PTK.P | T | KPTKP | 57 | 7 | 11 | IGLC3 | A0A075B6L0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6L0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237700-23237726;23264928-23264938 | 1 | 7 | 6 | 1 | 0 | 2 | 2 | 140 | 830 | 690 | -3.900000 | Hydrophilic;3.000000 | - | 27 | 1 | 0 | Unknown | 6.59014247243 |
562.428980301,5807.84483542 |
0 |
| 2158 | IG gene | Q.WKVDNALQSGNSQES:DSKDSTYSLSSTLTLSK.A | VTEQ | SD | 68 | 16 | 1 | IGKC | A0A087WZW8 | 3D-structure-{ECO:0000213|PDB:3X3F,-ECO:0000213|PDB:3X3G};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WZW8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156966-89157020;89157032-89157080 | 1 | 7 | 22 | 1 | -1 | -1 | 0 | 665 | 265 | -400 | -3.500000 | Hydrophilic;3.000000 | - | 54 | 1 | 0 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2158 | IG gene | Q.WKVDNALQSGNSQES:DSKDSTYSLSSTLTLSK.A | VTEQ | SD | 56 | 16 | 1 | IGKC | A0A075B6H6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6H6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156966-89157020;89157032-89157080 | 1 | 7 | 22 | 1 | -1 | -1 | 0 | 665 | 265 | -400 | -3.500000 | Hydrophilic;3.000000 | - | 54 | 1 | 0 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2158 | IG gene | Q.WKVDNALQSGNSQES:DSKDSTYSLSSTLTLSK.A | VTEQ | SD | 188 | 16 | 1 | IGKC | A0A087X1V9 | 3D-structure-{ECO:0000213|PDB:4XI5,-ECO:0000213|PDB:5DWU};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087X1V9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 89156966-89157020;89157032-89157080 | 1 | 7 | 22 | 1 | -1 | -1 | 0 | 665 | 265 | -400 | -3.500000 | Hydrophilic;3.000000 | - | 54 | 1 | 0 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2161 | IG gene | K.G:TVAAPSVFIFPPSDEQLK.S | R | G | 13 | 1 | 6 | IGKC | A0A087WZW8 | 3D-structure-{ECO:0000213|PDB:3X3F,-ECO:0000213|PDB:3X3G};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WZW8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89157137-89157196;89173187-89173191 | 1 | 10 | 162 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0.000000 |
| 2161 | IG gene | K.G:TVAAPSVFIFPPSDEQLK.S | R | G | 133 | 1 | 6 | IGKC | A0A087X1V9 | 3D-structure-{ECO:0000213|PDB:4XI5,-ECO:0000213|PDB:5DWU};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087X1V9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 89157137-89157196;89173187-89173191 | 1 | 10 | 162 | 1 | 1 | 0 | -1 | 225 | 75 | -150 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0.000000 |
| 2171 | IG gene | M.SLTEDVLAAALAN:HLPEDK.W | D | N | 206 | 13 | 2 | PIGS | Q96S52 | Alternative-splicing;-Complete-proteome;-Direct-protein-sequencing;Endoplasmic-reticulum;-Glycoprotein;-GPI-anchor-biosynthesis;Membrane;-Polymorphism;-Reference-proteome;-Transmembrane; | Membrane-Bound | Atlas | chr17 | 26888476-26888499;M1;26888500-26888539 | 1 | 0 | 3 | 1 | -1 | 0 | 1 | 150 | 160 | 10 | -3.500000 | Hydrophilic;0.200000 | - | 9 | 1 | 142 | Lumenal | 2.04647756006 |
3419.51579231,5807.84483542 |
0.000000 |
| 2172 | IG gene | R.STSET:TAALGCLVK.- | S | T | 21 | 5 | 1 | IGHG2 | P01859 | 3D-structure;-Complete-proteome;-Direct-protein-sequencing;Disulfide-bond;-Glycoprotein;-Immunoglobulin-C-region;Immunoglobulin-domain;-Reference-proteome;-Secreted. | Intracellular | Atlas | chr14 | 106109540-106109568;M1;106109569-106109585 | 1 | 1 | 66 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 112 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0.000000 |
| 2172 | IG gene | R.STSET:TAALGCLVK.- | S | T | 21 | 5 | 1 | IGHG2 | A0A0G2JN06 | - | Intracellular | Atlas | chr14 | 106109540-106109568;M1;106109569-106109585 | 1 | 1 | 66 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 112 | Unknown | 6.34049374791 |
587.640304227,5807.84483542 |
0.000000 |
| 2238 | IG gene | K.ANP:AVTLFPPSSEELQANK.A | T | A | 117 | 4 | 2 | IGLL5 | A0A0B4J231 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0B4J231};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237562-23237574;M1;23237575-23237625 | 1 | 11 | 42 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 38 | 1 | 52 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2238 | IG gene | K.ANP:AVTLFPPSSEELQANK.A | T | A | 116 | 4 | 2 | IGLL5 | B9A064 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Immunoglobulin-domain;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr22 | 23237562-23237574;M1;23237575-23237625 | 1 | 11 | 42 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 38 | 1 | 52 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2238 | IG gene | K.ANP:AVTLFPPSSEELQANK.A | T | A | 8 | 4 | 2 | IGLC1 | A0A075B6K8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237562-23237574;M1;23237575-23237625 | 1 | 11 | 42 | 1 | 0 | 0 | 0 | 140 | 115 | -25 | Hydrophobic;1.800000 | -0.500000 | - | 38 | 1 | 52 | Unknown | 5.52118974214 |
740.590696928,5807.84483542 |
0.000000 |
| 2239 | IG gene | K.ANPTVTLFPPSSEELQ:VNK.A | A | V | 130 | 17 | 2 | IGLL5 | A0A0B4J231 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0B4J231};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237562-23237614;M1;23237615-23237625 | 1 | 11 | 15 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 247 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2239 | IG gene | K.ANPTVTLFPPSSEELQ:VNK.A | A | V | 129 | 17 | 2 | IGLL5 | B9A064 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Immunoglobulin-domain;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr22 | 23237562-23237614;M1;23237615-23237625 | 1 | 11 | 15 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 247 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2239 | IG gene | K.ANPTVTLFPPSSEELQ:VNK.A | A | V | 21 | 17 | 2 | IGLC1 | A0A075B6K8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237562-23237614;M1;23237615-23237625 | 1 | 11 | 15 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 1 | 1 | 247 | Unknown | 5.52118974214 |
740.590696928,5807.84483542 |
0.000000 |
| 2240 | IG gene | L.ISDFYPG:VVTVAWK.A | A | V | 146 | 8 | 2 | IGLL5 | A0A0B4J231 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A0B4J231};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237637-23237662;M1;23237663-23237685 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 5 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2240 | IG gene | L.ISDFYPG:VVTVAWK.A | A | V | 145 | 8 | 2 | IGLL5 | B9A064 | Alternative-splicing;-Complete-proteome;-Disulfide-bond;Immunoglobulin-domain;-Reference-proteome;-Secreted;-Signal. | Intracellular | Atlas | chr22 | 23237637-23237662;M1;23237663-23237685 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 5 | Unknown | 1.51581236417 |
4016.2325792,5807.84483542 |
0.000000 |
| 2240 | IG gene | L.ISDFYPG:VVTVAWK.A | A | V | 37 | 8 | 2 | IGLC1 | A0A075B6K8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23237637-23237662;M1;23237663-23237685 | 1 | 7 | 1 | 1 | 0 | 0 | 0 | 115 | 155 | 40 | Hydrophobic;4.200000 | -1.500000 | - | 3 | 1 | 5 | Unknown | 5.52118974214 |
740.590696928,5807.84483542 |
0.000000 |
| 2241 | IG gene | K.ATLVCLI:TDFYPGAVTVAWK.A | S | T | 31 | 8 | 1 | IGLC3 | A0A075B6L0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6L0};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23248576-23248601;M1;23248602-23248642 | 2 | 8 | 90 | 1 | 0 | 0 | 0 | 115 | 140 | 25 | -0.700000 | -0.400000 | - | 1 | 1 | 249 | Unknown | 6.59014247243 |
562.428980301,5807.84483542 |
0.000000 |
| 2242 | IG gene | R.:NYSCRVTHEGSTVEK:.T | S | N | 84 | 1 | 1 | IGLC7 | A0A075B6L1 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6L1};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr22 | 23265010-23265014;M1;23265015-23265060;M1 | 1 | 5 | 20 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 38 | 3 | 58 | Unknown | 7.25175086786 |
485.536507128,5807.84483542 |
0.000000 |
| 2243 | IG gene | K.INAGMYILSPAVLR:.R | Q | R | 184 | 14 | 2 | GMPPB | Q9Y5P6 | Alternative-splicing;-Complete-proteome;Congenital-muscular-dystrophy;-Cytoplasm;-Disease-mutation;Dystroglycanopathy;-GTP-binding;-Limb-girdle-muscular-dystrophy;Nucleotide-binding;-Nucleotidyltransferase;-Polymorphism;Reference-proteome;-Transferase. | Intracellular | Atlas | chr3 | 49760034-49760038;M1;49760039-49760082 | 2 | 6 | 34 | 1 | 0 | 1 | 1 | 180 | 225 | 45 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs1466685). | 1 | 67 | 7667 | Unknown | 2.83078937892 |
2506.19059476,5807.84483542 |
2.353930 |
| 2244 | IG gene | K.L:YACEVTHQGLSSPVTK.S | V | L | 96 | 1 | 1 | IGKC | A0A087WZW8 | 3D-structure-{ECO:0000213|PDB:3X3F,-ECO:0000213|PDB:3X3G};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WZW8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156894-89156947;M1;89156948-89156951 | 3 | 8 | 927 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 17 | 4139 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0.000000 |
| 2244 | IG gene | K.L:YACEVTHQGLSSPVTK.S | V | L | 84 | 1 | 1 | IGKC | A0A075B6H6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6H6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156894-89156947;M1;89156948-89156951 | 3 | 8 | 927 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 17 | 4139 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0.000000 |
| 2244 | IG gene | K.L:YACEVTHQGLSSPVTK.S | V | L | 216 | 1 | 1 | IGKC | A0A087X1V9 | 3D-structure-{ECO:0000213|PDB:4XI5,-ECO:0000213|PDB:5DWU};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087X1V9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 89156894-89156947;M1;89156948-89156951 | 3 | 8 | 927 | 1 | 0 | 0 | 0 | 155 | 170 | 15 | Hydrophobic;3.800000 | -1.800000 | - | 1 | 17 | 4139 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0.000000 |
| 2245 | IG gene | K.DSTYSLSN:TLTLSK.A | S | N | 82 | 8 | 1 | IGKC | A0A087WZW8 | 3D-structure-{ECO:0000213|PDB:3X3F,-ECO:0000213|PDB:3X3G};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087WZW8};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156966-89156988;M1;89156989-89157014 | 1 | 9 | 7 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 42 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2245 | IG gene | K.DSTYSLSN:TLTLSK.A | S | N | 70 | 8 | 1 | IGKC | A0A075B6H6 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A075B6H6};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr2 | 89156966-89156988;M1;89156989-89157014 | 1 | 9 | 7 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 42 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2245 | IG gene | K.DSTYSLSN:TLTLSK.A | S | N | 202 | 8 | 1 | IGKC | A0A087X1V9 | 3D-structure-{ECO:0000213|PDB:4XI5,-ECO:0000213|PDB:5DWU};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Immunoglobulin-domain-{ECO:0000256|SAAS:SAAS00513664};Proteomics-identification-{ECO:0000213|PeptideAtlas:A0A087X1V9};Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr2 | 89156966-89156988;M1;89156989-89157014 | 1 | 9 | 7 | 1 | 0 | 0 | 0 | 115 | 160 | 45 | -3.500000 | Hydrophilic;0.200000 | - | 3 | 1 | 42 | Unknown | 7.85866193875 |
410.001135837,5807.84483542 |
0 |
| 2365 | IG gene | K.GVAGS:SVAVLCPYNR.K | G | S | 365 | 5 | 1 | PIGR | P01833 | 3D-structure;-Cell-membrane;-Complete-proteome;Direct-protein-sequencing;-Disulfide-bond;-Glycoprotein;Immunoglobulin-domain;-Membrane;-Phosphoprotein;-Polymorphism;Reference-proteome;-Repeat;-Secreted;-Signal;-Transmembrane; | Membrane-Bound | Atlas | chr1 | 207109080-207109115;M1;207109116-207109131 | 2 | 0 | 4 | 1 | 0 | 0 | 0 | 75 | 115 | 40 | -0.800000 | Hydrophilic;0.300000 | G->S(indbSNP:rs2275531). | 1 | 19 | 747 | Targetable | 0.572523949434 |
4590.00677004,5807.84483542 |
2.584963 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 239 | 21 | 1 | NDRG2 | Q9UN36 | 3D-structure;-Acetylation;-Alternative-splicing;-Cell-projection;Complete-proteome;-Cytoplasm;-Developmental-protein;-Differentiation;Neurogenesis;-Phosphoprotein;-Polymorphism;-Reference-proteome;Tumor-suppressor;-Wnt-signaling-pathway. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 224 | 21 | 1 | NDRG2 | A0A0A0MS87 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0A0MS87,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 239 | 21 | 1 | NDRG2 | G3V2I9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V2I9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 155 | 21 | 1 | NDRG2 | H0YJT9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H0YJT9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 165 | 21 | 1 | NDRG2 | A0A0U1RR50 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A0A0U1RR50,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 177 | 21 | 1 | NDRG2 | H7C0X0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:H7C0X0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 152 | 21 | 1 | NDRG2 | G3V578 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V578,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 152 | 21 | 1 | NDRG2 | G3V5L7 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V5L7,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 225 | 21 | 1 | NDRG2 | G3V4S9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V4S9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2419 | exon boundary | R.NIITHAPNLDNIELYWNSYNK.W | N | KW | 225 | 21 | 1 | NDRG2 | G3V5H8 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:G3V5H8,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr14 | 21487793-21487862 | 1 | 4 | 1 | 1 | 0 | 1 | 1 | 160 | 455 | 295 | -3.900000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 2.12998261099 |
3093.36918085,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | Q99829 | Acetylation;-Cell-membrane;-Complete-proteome;-Cytoplasm;Differentiation;-Membrane;-Nucleus;-Polymorphism;-Reference-proteome;Repeat;-Repressor;-Transcription;-Transcription-regulation. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | Q->R(indbSNP:rs6579255). | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | Q5JX60 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX60,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 187 | 20 | 1 | CPNE1 | Q5JX61 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX61,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | E7ENH5 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:E7ENH5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 187 | 20 | 1 | CPNE1 | Q5JX45 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX45,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | F2Z2V0 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:F2Z2V0,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | A6PVH9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:A6PVH9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 216 | 20 | 1 | CPNE1 | B0QZ18 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:B0QZ18,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 187 | 20 | 1 | CPNE1 | Q5JX52 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX52,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2442 | exon boundary | R.FSVPVQHFCGGNPSTPIQVR.S | Q | RS | 211 | 20 | 1 | CPNE1 | Q5JX44 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|EPD:Q5JX44,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr20 | 34219600-34219666 | 1 | 1 | 27 | 1 | 0 | 1 | 1 | 180 | 340 | 160 | -4.500000 | Hydrophilic;3.000000 | - | 1 | 1 | 0 | Unknown | 3.42288206173 |
1898.97484338,5807.84483542 |
0 |
| 2461 | exon boundary | K.VAQLEAQCQEPCKDTVQIHDITGKG.N | D | GN | 178 | 25 | 1 | FGG | P02679 | 3D-structure;-Alternative-splicing;-Blood-coagulation;-Calcium;Coiled-coil;-Complete-proteome;-Direct-protein-sequencing;Disease-mutation;-Disulfide-bond;-Glycoprotein;-Hemostasis;Isopeptide-bond;-Metal-binding;-Phosphoprotein;-Polymorphism;Reference-proteome;-Secreted;-Signal;-Sulfation. | Intracellular | Atlas | chr4 | 155531213-155531294 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 150 | 235 | 85 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0 |
| 2461 | exon boundary | K.VAQLEAQCQEPCKDTVQIHDITGKG.N | V | GN | 178 | 25 | 1 | FGG | C9JC84 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00425769};Proteomics-identification-{ECO:0000213|MaxQB:C9JC84,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 155531213-155531294 | 1 | 7 | 2 | 1 | 0 | 0 | 0 | 155 | 235 | 80 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0 |
| 2461 | exon boundary | K.VAQLEAQCQEPCKDTVQIHDITGKG.N | D | GN | 75 | 25 | 1 | FGG | C9JU00 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JU00,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 155531213-155531294 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 150 | 235 | 85 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0 |
| 2461 | exon boundary | K.VAQLEAQCQEPCKDTVQIHDITGKG.N | D | GN | 75 | 25 | 1 | FGG | C9JPQ9 | Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Proteomics-identification-{ECO:0000213|MaxQB:C9JPQ9,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}. | Intracellular | Atlas | chr4 | 155531213-155531294 | 1 | 7 | 2 | 1 | -1 | 0 | 1 | 150 | 235 | 85 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0 |
| 2461 | exon boundary | K.VAQLEAQCQEPCKDTVQIHDITGKG.N | V | GN | 178 | 25 | 1 | FGG | C9JEU5 | Coiled-coil-{ECO:0000256|SAM:Coils};Complete-proteome-{ECO:0000313|Proteomes:UP000005640};Disulfide-bond-{ECO:0000256|SAAS:SAAS00425769};Proteomics-identification-{ECO:0000213|MaxQB:C9JEU5,Reference-proteome-{ECO:0000313|Proteomes:UP000005640}; | Intracellular | Atlas | chr4 | 155531213-155531294 | 1 | 7 | 2 | 1 | 0 | 0 | 0 | 155 | 235 | 80 | -0.400000 | 0.000000 | - | 1 | 1 | 0 | Unknown | 6.84657150369 |
526.105615537,5807.84483542 |
0 |